Updated on 2024/10/04

写真a

 
AKAHANE Toshiaki
 
Organization
Research Field in Medicine and Health Sciences, Medical and Dental Sciences Area Graduate School of Medical and Dental Sciences Advanced Therapeutics Course Oncology

Degree

  • Doctor of Philosophy in Medical Science ( 2022.5   Kagoshima University )

Research History

  • Kagoshima University   Assistant Professor

    2022.9

  • Kagoshima University   Research Field in Medicine and Health Sciences, Medical and Dental Sciences Area Graduate School of Medical and Dental Sciences Advanced Therapeutics Course Oncology

    2018.2 - 2022.8

 

Papers

  • Hamada T. .  An oncogenic splice variant of PDGFRα in adult glioblastoma as a therapeutic target for selective CDK4/6 inhibitors .  Scientific Reports12 ( 1 ) 1275   2022.12Reviewed

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    Language:English   Publisher:Scientific Reports  

    DOI: 10.1038/s41598-022-05391-9

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  • Kitazono I. .  ATM immunohistochemistry as a potential marker for the differential diagnosis of no specific molecular profile subtype and POLE-mutation subtype endometrioid carcinoma .  Pathology Research and Practice230   153743   2022.2Reviewed

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    Language:English   Publisher:Pathology Research and Practice  

    DOI: 10.1016/j.prp.2021.153743

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  • Akahane T. .  Direct next-generation sequencing analysis using endometrial liquid-based cytology specimens for rapid cancer genomic profiling .  Diagnostic Cytopathology49 ( 9 ) 1078 - 1085   2021.9Reviewed

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    Language:English   Publisher:Diagnostic Cytopathology  

    DOI: 10.1002/dc.24841

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  • Yamaguchi T. .  Next-generation sequencing in residual liquid-based cytology specimens for cancer genome analysis .  Diagnostic Cytopathology48 ( 11 ) 965 - 971   2020.11Reviewed

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    Language:English   Publisher:Diagnostic Cytopathology  

    DOI: 10.1002/dc.24511

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  • Akahane T. .  Targeted next-generation sequencing assays using triplet samples of normal breast tissue, primary breast cancer, and recurrent/metastatic lesions .  BMC Cancer20 ( 1 ) 944   2020.10Reviewed

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    Language:English   Publisher:BMC Cancer  

    DOI: 10.1186/s12885-020-07432-w

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  • Higa N. .  A tailored next-generation sequencing panel identified distinct subtypes of wildtype IDH and TERT promoter glioblastomas .  Cancer Science111 ( 10 ) 3902 - 3911   2020.10Reviewed

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    Language:English   Publisher:Cancer Science  

    DOI: 10.1111/cas.14597

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  • Akahane T. .  Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: A comparative study to tissue specimens .  BMC Medical Genomics13 ( 1 ) 101   2020.7Reviewed

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    Language:English   Publisher:BMC Medical Genomics  

    DOI: 10.1186/s12920-020-00753-6

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  • Akahane T. .  Comprehensive validation of liquid-based cytology specimens for next-generation sequencing in cancer genome analysis .  PLoS ONE14 ( 6 ) e0217724   2019.6

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    Language:English   Publisher:PLoS ONE  

    DOI: 10.1371/journal.pone.0217724

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  • Higa N, Akahane T, Kirishima M, Yonezawa H, Makino R, Uchida H, Yokoyama S, Takajo T, Otsuji R, Fujioka Y, Sangatsuda Y, Kuga D, Yamahata H, Hata N, Horie N, Kurosaki M, Yamamoto J, Yoshimoto K, Tanimoto A, Hanaya R .  All-in-one bimodal DNA and RNA next-generation sequencing panel for integrative diagnosis of glioma. .  Pathology, research and practice263   155598   2024.9All-in-one bimodal DNA and RNA next-generation sequencing panel for integrative diagnosis of glioma.

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    DOI: 10.1016/j.prp.2024.155598

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  • Tanaka Y, Natsumeda M, Ohashi M, Saito R, Higa N, Akahane T, Hashidate H, Ito J, Fujii S, Sasaki A, Tanimoto A, Hanaya R, Watanabe K, Oishi M, Kawashima H, Kakita A .  Primary spinal cord gliomas: Pathologic features associated with prognosis. .  Journal of neuropathology and experimental neurology   2024.7Primary spinal cord gliomas: Pathologic features associated with prognosis.

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    DOI: 10.1093/jnen/nlae084

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  • Kitazono I., Akahane T., Sasaki H., Ohi Y., Shinden Y., Takajo T., Tasaki T., Higashi M., Noguchi H., Hisaoka M., Tanimoto A. .  Malignant phyllodes tumor with EGFR variant III mutation: A rare case report with immunohistochemical and genomic studies .  Pathology Research and Practice259   155389   2024.7

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    Language:Japanese   Publisher:Pathology Research and Practice  

    A female in her 60's presented with a left-sided breast mass. A core needle biopsy specimen showed diffuse proliferation of a round cell tumor, which was positive for vimentin, NKX2.2, BCOR, and focal CD99 on immunohistochemistry (IHC). No fusion genes of the Ewing family sarcomas were detected. With a tentative diagnosis of primary breast sarcoma (PBS), total mastectomy was performed after chemotherapy. The resected tissues showed proliferation of round or spindle-shaped tumor cells with a high nuclear-to-cytoplasmic ratio, exhibiting solid and fascicular arrangements but no epithelial component or organoid pattern. While IHC indicated no particular histological diagnosis, genomic examination revealed gene alterations in MED12 p.G44D, MLL2 (KMT2D) p.T1496fs*27, and EGFR variant III (vIII). Moreover, a retrospective IHC study showed overexpression of EGFRvIII. A malignant phyllodes tumor (PT) with extensive sarcomatous overgrowth was indicated as an integrative diagnosis. This is a rare case of a malignant PT harboring EGFRvIII. The present case provides an importance of accurate diagnosis and genomic analysis of rare breast tumors, as malignant PT and PBS are different in its treatment strategy and prognosis.

    DOI: 10.1016/j.prp.2024.155389

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  • Oi H, Hozaka Y, Akahane T, Fukuda K, Idichi T, Tanoue K, Yamasaki Y, Kawasaki Y, Mataki Y, Kurahara H, Higashi M, Tanimoto A, Ohtsuka T .  Genetic assessment of IPMN for predicting concomitant pancreatic ductal adenocarcinoma. .  Pancreas   2024.5Genetic assessment of IPMN for predicting concomitant pancreatic ductal adenocarcinoma.

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    DOI: 10.1097/MPA.0000000000002373

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  • Yanazume S., Kirita Y., Kobayashi Y., Kitazono I., Akahane T., Mizuno M., Togami S., Tanimoto A., Kobayashi H. .  Can Endometrial Cytology Identify Patients Who Would Benefit from Immunotherapy? .  Acta Cytologica68 ( 2 ) 128 - 136   2024.3

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    Language:Japanese   Publisher:Acta Cytologica  

    mutation (POLEmut) subtype, MMR-deficient (MMR-d) subtype as classified by The Cancer Genome Atlas (TCGA), and a high tumor mutation burden (TMB-high) potentially benefit from immunotherapy. However, characteristics of the cytological morphology within these populations remain unknown. Methods: DNA extracted from formalin-fixed paraffinembedded tissues was subjected to next-generation sequencing analysis. Genomic mutations related to gynecological cancers, TMB, and microsatellite instability were analyzed and were placed in four TCGA classification types. The following morphological cytological investigations were conducted on endometrial cancer using a liquid-based preparation method, prior to the commencement of initial treatment: (i) cytological backgrounds; (ii) differences between each count of neutrophils and lymphocytes as described below. Results: Insignificant differences in the cytological background patterns of TCGA groups and TMB status were found. Although there was no significant difference in neutrophil count (p = 0.955) in the TCGA groups, POLEmut and MMR-d had significantly higher lymphocyte counts than no specific molecular profile (NSMP) (p = 0.019 and 0.037, respectively); furthermore, p53mut also tended to be significant (p = 0.064). Lymphocyte counts in TMB-high were also significantly greater than TMB-low (p = 0.002). POLEmut showed a positive correlation between TMB levels and lymphocyte counts. For predicting patients with POLEmut plus MMRd, lymphocyte counts demonstrated a superior diagnostic accuracy of area under the curve (AUC) (0.70, 95% CI: 0.57-0.84), with a cutoff value of 26 high-power field. Conclusion: Lymphocyte count using liquid-based cytology for patients with endometrial cancer may predict POLEmut plus MMR-d of TCGA groups and TMB-high in those who can benefit from immunotherapy. 2024 S. Karger AG, Basel.

    DOI: 10.1159/000538288

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  • Kitazono I., Akahane T., Yokoyama S., Kubota E., Nishida-Kirita Y., Noguchi H., Murakami M., Yanazume S., Kobayashi H., Tanimoto A. .  Cervical Cytology Preserves Histologically Detected Surface Epithelial Slackening, Unique to the POLE Mutation-subtype in Endometrial Cancer .  In Vivo38 ( 1 ) 321 - 333   2024.1

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    Background/Aim: Among the four genomic subtypes of endometrial cancer, distinguishing between the DNA polymerase epsilon mutation (POLEmut) and no specific molecular profile (NSMP) subtypes requires genomic profiling owing to the lack of surrogate immunohistochemical markers. We have previously found that, histologically, the POLEmut-subtype exhibits surface epithelial slackening (SES). Therefore, to improve subtype identification, we aimed to extract cytological features corresponding to SES in POLEmut-subtype cervical cytology specimens. Materials and Methods: We analyzed 104 endometrial cancer cervical cytology specimens, with integrative diagnosis confirmation via histology, immunohistochemistry, and genomic profiling. Cytological features were evaluated for the presence of atypical glandular cells, atypical cell appearance in single cells and clusters, and cytological SES and the presence of tumor-infiltrating inflammatory cells in clusters. Results: Based on cervical cytology, the POLEmut- and p53mutsubtypes exhibited more frequent atypical cells in smaller clusters, giant tumor cells, and cytological SES patterns than the NSMP-subtype. Tumor-infiltrating lymphocytes were frequent in the POLEmut- and mismatch repair-deficient subtypes. Conclusion: Histologically-detected SES as well as other endometrial cancer features may be preserved in the atypical cell clusters observed in cervical cytology specimens. Cytological detection of SES and of smaller clusters of atypical cells and inflammatory cells with moderate atypia are suggestive of POLEmut-subtype. Integrative diagnosis including genomic profiling remains critical for diagnostic confirmation.

    DOI: 10.21873/invivo.13442

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  • YAMANAKA Sae, TOKIMURA Hiroshi, HIGA Nayuta, IWAMOTO Hirofumi, NISHIMUTA Yosuke, SUEYOSHI Kazunobu, YONEZAWA Hajime, TAJITSU Kenichiro, AKAHANE Toshiaki, TANIMOTO Akihide, HANAYA Ryosuke .  Pilocytic Astrocytoma Presenting with Spontaneous Cerebellar Hemorrhage: A Case Report .  NMC Case Report Journal10 ( 0 ) 303 - 308   2023.12

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    <p>Hemorrhagic pilocytic astrocytomas (PAs) are rare, accounting for 1.1%-8.0% of all PA cases. They are reported to occur more frequently in older populations, with a male predominance. In this study, we report a case of a 14-year-old boy who presented with a headache, vertigo, and diplopia. As per his brain computed tomography scan, a small hematoma was observed in the left inferior cerebellar peduncle. Follow-up magnetic resonance imaging (MRI) revealed repeated minor bleeding from the lesion and mild expansion, with no neurological deficits. Four years later, the patient developed nausea, vomiting, and left abducens palsy. MRI revealed a mulberry-shaped mass surrounded by a hypointense rim, suggesting a cavernous angioma. The lesion was surgically resected via midline occipital craniotomy with the opening of the cerebellomedullary fissure. Histopathological examination of the lesion revealed PA. Next-generation sequencing analyses revealed that PAs harbored mutations in the <i>ARID1A</i>, <i>ATM</i>, and <i>POLE</i> genes but not in the <i>BRAF</i> gene. To the best of our knowledge, there are yet no reported studies on these mutations in PAs to date. Thus, PA should be considered in the differential diagnosis of cerebellar hemorrhage, especially in young adults and children. </p>

    DOI: 10.2176/jns-nmc.2023-0152

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  • Hamada T., Higashi M., Yokoyama S., Akahane T., Hisaoka M., Noguchi H., Furukawa T., Tanimoto A. .  MALAT1 functions as a transcriptional promoter of MALAT1::GLI1 fusion for truncated GLI1 protein expression in cancer .  BMC Cancer23 ( 1 ) 424   2023.12

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    Background: The long non-coding RNA metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) is a cancer biomarker. Furthermore, fusion of the MALAT1 gene with glioma-associated oncogene 1 (GLI1) is a diagnostic marker of plexiform fibromyxoma and gastroblastoma; however, the function of this fusion gene remains unexplored. Method: In this study, we elucidate the structure and function of the MALAT1::GLI1 fusion gene. To this end, we determined a transcriptional start site (TSS) and promoter region for truncated GLI1 expression using rapid amplification of the 5' cDNA end and a luciferase reporter assay in cultured cells transfected with a plasmid harboring the MALAT1::GLI1 fusion gene. Results: We found that the TATA box, ETS1 motif, and TSS were located in MALAT1 and that MALAT1 exhibited transcriptional activity and induced expression of GLI1 from the MALAT1::GLI1 fusion gene. Truncated GLI1, lacking SUMOylation and SUFU binding sites and located in the nucleus, upregulated mRNA expression of GLI1 target genes in the hedgehog signaling pathway. Conclusions: We demonstrate a distinct and alternative function of MALAT1 as a transcriptional promoter for expression of the MALAT1::GLI1 fusion gene. Our findings will aid future research on MALAT1 and its fusion gene partners.

    DOI: 10.1186/s12885-023-10867-6

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  • Yamanaka Sae, Tokimura Hiroshi, Higa Nayuta, Iwamoto Hirofumi, Nishimuta Yosuke, Sueyoshi Kazunobu, Yonezawa Hajime, Tajitsu Kenichiro, Akahane Toshiaki, Tanimoto Akihide, Hanaya Ryosuke .  自然小脳出血を呈した毛様細胞性星細胞腫 症例報告(Pilocytic Astrocytoma Presenting with Spontaneous Cerebellar Hemorrhage: A Case Report) .  NMC Case Report Journal10 ( 1 ) 303 - 308   2023.12自然小脳出血を呈した毛様細胞性星細胞腫 症例報告(Pilocytic Astrocytoma Presenting with Spontaneous Cerebellar Hemorrhage: A Case Report)

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    Language:English   Publisher:(一社)日本脳神経外科学会  

    症例は14歳男児。バスケットボール中に頭部を負傷した後、頭痛、めまい、複視を呈した。CTで左下小脳小帯に小さな血腫を認めた。MRIによる経過観察では、血腫からの軽度の出血と軽度の拡張を繰り返されたが、神経学的障害は認められなかった。しかし、4年後に悪心、嘔吐、左外転麻痺を発症した。MRIにより腫瘤が認められ、mulberry-shaped腫瘍が示唆された。病変は外科的切除された。病変の病理組織学的検査の結果、毛様細胞性星細胞腫が認められた。次世代シーケンス解析の結果、毛様細胞性星細胞腫はARIDIA遺伝子、ATM遺伝子、POLE遺伝子変異を有していたが、BRAJ遺伝子には変異は認められなかった。

  • 赤羽 俊章 .  FOCUS 診断用カスタムがん遺伝子パネル検査を用いた脳腫瘍の統合分子病理診断 .  検査と技術51 ( 10 ) 1198 - 1201   2023.10FOCUS 診断用カスタムがん遺伝子パネル検査を用いた脳腫瘍の統合分子病理診断

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    Publisher:株式会社医学書院  

    DOI: 10.11477/mf.1543209142

  • Akahane T., Isochi-Yamaguchi T., Hashiba-Ohnuki N., Bandoh N., Aimono E., Kato Y., Nishihara H., Kamada H., Tanimoto A. .  Cancer gene analysis of liquid-based cytology specimens using next-generation sequencing: A technical report of bimodal DNA- and RNA-based panel application .  Diagnostic Cytopathology51 ( 8 ) 493 - 500   2023.8

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    Background: As liquid-based cytology (LBC) specimens harbor high-quality DNA, genomic analysis using LBC specimens is beneficial for integrative diagnosis. This study aimed to clarify the feasibility of LBC specimens for a bimodal application of DNA- and RNA-based next-generation sequencing (NGS) panels. Methods: LBC specimens were prepared from cultured human cancer HEC59 cells using commercially available fixatives (Cellprep, CytoRich Red, and SurePath solutions), and were subjected to NGS for a feasibility study. Clinical LBC specimens of thyroid and salivary gland tumors were prepared using CytoRich Red solution. After DNA and RNA extraction, NGS analyses were performed in a single run using combined DNA- and RNA-based custom-made cancer panels for the detection of gene mutations and fusions. Results: High-quality DNA and RNA were obtained, and the expected gene mutations and fusions were detected in HEC59 cells using all types of LBC fixatives. Most available clinical cases (18 out of 20) exhibited pathogenic gene mutations (15 cases) and fusion genes (3 cases) using the bimodal DNA- and RNA-based panels. Overall, 18 cases (90%) showed oncogenic mutations or fusion genes of diagnostic values. Conclusion: Simultaneous application of bimodal DNA- and RNA-based gene panels was useful in NGS analysis using residual LBC specimens for integrative diagnosis. Residual LBC specimens for genomic analysis, including fusion gene analysis, are particularly useful for obtaining genomic information before surgical resection.

    DOI: 10.1002/dc.25149

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  • Kirishima M., Akahane T., Takajo T., Higa N., Yonezawa H., Uchida H., Kamimura K., Hanaya R., Yoshimoto K., Higashi M., Yoshiura T., Tanimoto A. .  A case of glioblastoma harboring non-amplified epidermal growth factor receptor variant III: Critical molecular detection using RNA-based panel analysis .  Pathology Research and Practice248   154712   2023.8

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    Amplification of the epidermal growth factor receptor gene (EGFR) and its variants are the most commonly detected pathogenic gene alterations in glioblastoma. Herein, we report a case of molecularly defined glioblastoma harboring an EGFR variant III (EGFRvIII) without EGFR amplification. The initial histological diagnosis was isocitrate dehydrogenase (IDH)-wildtype low-grade glioma, due to an absence of anaplasia, necrosis, and microvascular proliferation, and a low Ki-67 labeling index. DNA-based next-generation sequencing (NGS) panel analysis revealed a TERTp promoter mutation but no EGFR mutation or amplification, supporting the diagnosis of “molecular glioblastoma.” However, RNA-based NGS panel analysis revealed mRNA expression of EGFRvIII. Therefore, the final integrative diagnosis was glioblastoma with non-amplified EGFRvIII. Our report suggests that non-amplified EGFRvIII might be an early molecular event in glioblastoma tumorigenesis. In addition to the usual DNA-based analysis, RNA-based analysis is required to identify exon-skipping EGFR variants without EGFR amplification.

    DOI: 10.1016/j.prp.2023.154712

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  • Kitazono I., Akahane T., Yokoyama S., Kobayashi Y., Togami S., Yanazume S., Tasaki T., Noguchi H., Tabata K., Kobayashi H., Tanimoto A. .  “Surface epithelial slackening” pattern in endometrioid carcinoma: A morphological feature for differentiating the POLE mutation-subtype from the no specific molecular profile subtype .  Pathology Research and Practice247   154563   2023.7

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    Endometrial cancers are classified into mismatch repair (MMR) deficient- (MMRd), p53 mutation- (p53mut), DNA polymerase epsilon (POLE) mutation (POLEmut), and no specific molecular profile (NSMP) subtypes according to The Cancer Genome Atlas (TCGA). The distinction between POLEmut and NSMP subtypes is made on the basis of molecular analysis because the specific histological and immunohistochemical features of these two subtypes are still unknown. In this study, we analyzed histological features by scoring the presence of a mucinous pool, giant cells, clear cells, keratinization, neutrophilic abscess, and surface proliferating pattern in 82 cases of endometrial cancers in which an integrative diagnosis was confirmed by immunohistochemistry and genomic profiles showing POLE mutations, tumor mutation burden, and microsatellite instability. In contrast to the hierarchical branching of micropapillary proliferation observed in serous carcinoma, POLEmut-subtype endometrioid carcinomas often showed a surface epithelial slackening (SES) pattern in the tumor cells facing the uterine surface. The POLEmut subtype exhibited higher scores for clear cells and SES patterns than the other three subtypes. The scores for giant cells, clear cells, and the SES pattern were significantly higher in the POLEmut subtype than in the NSMP subtype, suggesting that these morphometric parameters are useful for differentiating POLEmut- and NSMP-subtype endometrioid carcinomas, although genomic profiling is still necessary for a definite molecular diagnosis.

    DOI: 10.1016/j.prp.2023.154563

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  • Yanazume S., Iwakiri K., Kobayashi Y., Kitazono I., Akahane T., Mizuno M., Togami S., Tanimoto A., Kobayashi H. .  Cytopathological features associated with POLE mutation in endometrial cancer .  Cytopathology34 ( 3 ) 211 - 218   2023.5

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    Language:Japanese   Publisher:Cytopathology  

    Objective: For patients with endometrial cancer, the POLE (polymerase epsilon) mutation (POLEmut)-subtype, one of four molecular-analysis-based categories in the Cancer Genome Atlas (TCGA), has the best prognosis. The following histological characteristics are typically observed in endometroid carcinoma cases with the POLEmut-subtype: (1) the presence of tumour giant cells, (2) numerous tumour-infiltrating lymphocytes (TILs) and/or peri-tumoral lymphocytes, and (3) a high grade. However, in the context of cytology, the morphological characteristics of this subtype remain unknown. Methods: DNA extracted from formalin-fixed paraffin-embedded (FFPE) tissues was subjected to next-generation sequencing analysis and categorised according to the TCGA classifications. Genomic mutation, tumour mutation burden (TMB), and microsatellite instability were also assessed. Cytological specimens of resected uteri obtained using the Papanicolaou method were histologically separated into three types. Results: Seven out of 112 patients (6%) with endometrial cancer were diagnosed with the POLEmut-subtype between January 2019 and August 2021. Tumour giant cells were observed in three cases (43%) on histology and cytology. TIL and/or peritumoral lymphocytes with inflammatory cells were detected in five cases (71%) on histology and three cases (43%) on cytology. Cases in which these three characteristics were observed on both cytology and histology may have belonged to the POLEmut-subtype. There were no cases in which these characteristics were absent on histology but present on cytology. TMB tended to be higher in cases when the three characteristics were observed in both cytological and histological findings. Conclusions: Preoperative endometrial cytology highlighted the characteristics of the POLEmut-subtype in the histological analysis of resected uterine specimens and has the potential to play an important role in treatment decisions.

    DOI: 10.1111/cyt.13215

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  • Iwaya H., Tanimoto A., Toyodome K., Kojima I., Hinokuchi M., Tanoue S., Hashimoto S., Kawahira M., Arima S., Kanmura S., Akahane T., Higashi M., Suzuki S., Ueno S., Ohtsuka T., Ido A. .  Next-Generation Sequencing Analysis of Pancreatic Cancer Using Residual Liquid Cytology Specimens from Endoscopic Ultrasound—Guided Fine-Needle Biopsy: A Prospective Comparative Study with Tissue Specimens .  Diagnostics13 ( 6 )   2023.3

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    Language:Japanese   Publisher:Diagnostics  

    This study evaluated the feasibility and clinical utility of liquid-based cytology (LBC) specimens via endoscopic ultrasound–guided fine-needle biopsy (EUS-FNB) for next-generation sequencing (NGS) of pancreatic cancer (PC). We prospectively evaluated the performance of DNA extraction and NGS using EUS-FNB samples obtained from PC. Thirty-three consecutive patients with PC who underwent EUS-FNB at our hospital were enrolled. DNA samples were obtained from 96.8% of the patients. When stratified with a variant allele frequency (VAF) > 10% tumor burden, the NGS success rate was 76.7% (n = 23) in formalin-fixed paraffin-embedded (FFPE), 83.3% (n = 25) in LBC, and 76.7% (n = 23) in frozen samples. The overall NGS success rate was 86.7% (n = 26) using FFPE, LBC, or frozen samples. The detection rates for the main mutated genes were as follows: 86.7% for KRAS, 73.3% for TP53, 66.7% for CDKN2A, 36.7% for SMAD4, and 16.7% for ARID1A. LBC had the highest median value of VAF (23.5%) for KRAS and TP53. PC mutation analysis using NGS was successfully performed using LBC compared with FFPE and frozen samples. This approach provides an alternative and affordable source of molecular testing materials.

    DOI: 10.3390/diagnostics13061078

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  • Higa N., Akahane T., Yokoyama S., Makino R., Yonezawa H., Uchida H., Takajo T., Kirishima M., Hamada T., Noguchi N., Otsuji R., Kuga D., Nagasaka S., Yamahata H., Yamamoto J., Yoshimoto K., Tanimoto A., Hanaya R. .  Favorable prognostic impact of phosphatase and tensin homolog alterations in wild-type isocitrate dehydrogenase and telomerase reverse transcriptase promoter glioblastoma .  Neuro-Oncology Advances5 ( 1 ) vdad078   2023.1

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    Language:Japanese   Publisher:Neuro-Oncology Advances  

    Background: Telomerase reverse transcriptase promoter (TERTp) mutations are a biological marker of glioblastoma; however, the prognostic significance of TERTp mutational status is controversial. We evaluated this impact by retrospectively analyzing the outcomes of patients with isocitrate dehydrogenase (IDH)- and TERTp-wild-type glioblastomas. Methods: Using custom next-generation sequencing, we analyzed 208 glioblastoma samples harboring wild-type IDH. Results: TERTp mutations were detected in 143 samples (68.8%). The remaining 65 (31.2%) were TERTp-wild-type. Among the TERTp-wild-type glioblastoma samples, we observed a significant difference in median progression-free survival (18.6 and 11.4 months, respectively) and overall survival (not reached and 15.7 months, respectively) in patients with and without phosphatase and tensin homolog (PTEN) loss and/or mutation. Patients with TERTp-wild-type glioblastomas with PTEN loss and/or mutation were younger and had higher Karnofsky Performance Status scores than those without PTEN loss and/or mutation. We divided the patients with TERTp-wild-type into 3 clusters using unsupervised hierarchical clustering: Good (PTEN and TP53 alterations; lack of CDKN2A/B homozygous deletion and platelet-derived growth factor receptor alpha (PDGFRA) alterations), intermediate (PTEN alterations, CDKN2A/B homozygous deletion, lack of PDGFRA, and TP53 alterations), and poor (PDGFRA and TP53 alterations, CDKN2A/B homozygous deletion, and lack of PTEN alterations) outcomes. Kaplan-Meier survival analysis indicated that these clusters significantly correlated with the overall survival of TERTp-wild-type glioblastoma patients. Conclusions: Here, we report that PTEN loss and/or mutation is the most useful marker for predicting favorable outcomes in patients with IDH- and TERTp-wild-type glioblastomas. The combination of 4 genes, PTEN, TP53, CDKN2A/B, and PDGFRA, is important for the molecular classification and individual prognosis of patients with IDH- and TERTp-wild-type glioblastomas.

    DOI: 10.1093/noajnl/vdad078

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  • Hamada T., Yokoyama S., Akahane T., Matsuo K., Tanimoto A. .  Genome Editing Using Cas9 Ribonucleoprotein Is Effective for Introducing PDGFRA Variant in Cultured Human Glioblastoma Cell Lines .  International Journal of Molecular Sciences24 ( 1 )   2023.1

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    Language:Japanese   Publisher:International Journal of Molecular Sciences  

    Many variants of uncertain significance (VUS) have been detected in clinical cancer cases using next-generation sequencing-based cancer gene panel analysis. One strategy for the elucidation of VUS is the functional analysis of cultured cancer cell lines that harbor targeted gene variants using genome editing. Genome editing is a powerful tool for creating desired gene alterations in cultured cancer cell lines. However, the efficiency of genome editing varies substantially among cell lines of interest. We performed comparative studies to determine the optimal editing conditions for the introduction of platelet-derived growth factor receptor alpha (PDGFRA) variants in human glioblastoma multiforme (GBM) cell lines. After monitoring the copy numbers of PDGFRA and the expression level of the PDGFRα protein, four GBM cell lines (U-251 MG, KNS-42, SF126, and YKG-1 cells) were selected for the study. To compare the editing efficiency in these GBM cell lines, the modes of clustered regularly interspaced short palindromic repeat (CRISPR)-associated protein 9 (Cas9) delivery (plasmid vs. ribonucleoprotein (RNP)), methods of transfection (lipofection vs. electroporation), and usefulness of cell sorting were then evaluated. Herein, we demonstrated that electroporation-mediated transfer of Cas9 with single-guide RNA (Cas9 RNP complex) could sufficiently edit a target nucleotide substitution, irrespective of cell sorting. As the Cas9 RNP complex method showed a higher editing efficiency than the Cas9 plasmid lipofection method, it was the optimal method for single-nucleotide editing in human GBM cell lines under our experimental conditions.

    DOI: 10.3390/ijms24010500

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  • Higa N., Akahane T., Hamada T., Yonezawa H., Uchida H., Makino R., Watanabe S., Takajo T., Yokoyama S., Kirishima M., Matsuo K., Fujio S., Hanaya R., Tanimoto A., Yoshimoto K. .  Distribution and favorable prognostic implication of genomic EGFR alterations in IDH-wildtype glioblastoma .  Cancer Medicine12 ( 1 ) 49 - 60   2023.1

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    Language:Japanese   Publisher:Cancer Medicine  

    Background: We aimed to evaluate the mutation profile, transcriptional variants, and prognostic impact of the epidermal growth factor receptor (EGFR) gene in isocitrate dehydrogenase (IDH)-wildtype glioblastomas (GBMs). Methods: We sequenced EGFR, evaluated the EGFR splicing profile using a next-generation sequencing oncopanel, and analyzed the outcomes in 138 grade IV IDH-wildtype GBM cases. Results: EGFR mutations were observed in 10% of GBMs. A total of 23.9% of the GBMs showed EGFR amplification. Moreover, 25% of the EGFR mutations occurred in the kinase domain. Notably, EGFR alterations were a predictor of good prognosis (p = 0.035). GBM with EGFR alterations was associated with higher Karnofsky Performance Scale scores (p = 0.014) and lower Ki-67 scores (p = 0.005) than GBM without EGFR alterations. EGFRvIII positivity was detected in 21% of EGFR-amplified GBMs. We identified two other EGFR variants in GBM cases with deletions of exons 6–7 (Δe 6–7) and exons 2–14 (Δe 2–14). In one case, the initial EGFRvIII mutation transformed into an EGFR Δe 2–14 mutation during recurrence. Conclusions: We found that the EGFR gene profiles of GBM differ among cohorts and that EGFR alterations are good prognostic markers of overall survival in patients with IDH-wildtype GBM. Additionally, we identified rare EGFR variants with longitudinal and temporal transformations of EGFRvIII.

    DOI: 10.1002/cam4.4939

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  • Makino R, Higa N, Akahane T, Yonezawa H, Uchida H, Takajo T, Fujio S, Kirishima M, Hamada T, Yamahata H, Kamimura K, Yoshiura T, Yoshimoto K, Tanimoto A, Hanaya R .  Alterations in EGFR and PDGFRA are associated with the localization of contrast-enhancing lesions in glioblastoma. .  Neuro-oncology advances5 ( 1 ) vdad110   2023.1Alterations in EGFR and PDGFRA are associated with the localization of contrast-enhancing lesions in glioblastoma.

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    DOI: 10.1093/noajnl/vdad110

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  • Kitazono I., Akahane T., Kobayashi Y., Yanazume S., Tabata K., Tasaki T., Noguchi H., Kirishima M., Higashi M., Kobayashi H., Tanimoto A. .  Pelvic Carcinosarcoma Showing a Diverse Histology and Hierarchical Gene Mutation with a Common POLE Mutation to Endometrial Endometroid Carcinoma: A Case Report .  International Journal of Surgical Pathology30 ( 8 ) 891 - 899   2022.12

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    POLE mutation-type endometrial cancer is characterized by an extremely high tumor mutation burden. Most POLE mutation-type endometrial cancers are histologically endometrioid carcinomas, and POLE mutation-type carcinosarcomas are rare among endometrial cancers. We report a case of endometrial and pelvic cancer in a 53-year-old woman who was analyzed using next-generating sequencing. The endometrial lesion harbored a p.T457del POLE mutation with an elevated tumor mutation burden and low microsatellite instability. The pelvic lesion showed divergent histological features, consisting of high-grade endometrioid carcinoma, neuroendocrine carcinoma, and chondrosarcoma. In addition to the common POLE mutation detected in the endometrial lesion, the pelvic lesion in each element showed additional gene mutations in a hierarchical manner. Therefore, it is indicated that the p.T457del POLE mutation is a pathogenic mutation and may be related to POLE mutation-induced carcinogenesis and divergent morphogenesis in endometrial cancer.

    DOI: 10.1177/10668969221088880

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  • Kirishima M., Yokoyama S., Matsuo K., Hamada T., Shimokawa M., Akahane T., Sugimoto T., Tsurumaru H., Ishibashi M., Mataki Y., Ootsuka T., Nomoto M., Hayashi C., Horiguchi A., Higashi M., Tanimoto A. .  Gallbladder microbiota composition is associated with pancreaticobiliary and gallbladder cancer prognosis .  BMC Microbiology22 ( 1 ) 147   2022.12

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    Language:Japanese   Publisher:BMC Microbiology  

    Background: The microbial population of the intestinal tract and its relationship to specific diseases has been extensively studied during the past decade. However, reports characterizing the bile microbiota are rare. This study aims to investigate the microbiota composition in patients with pancreaticobiliary cancers and benign diseases by 16S rRNA gene amplicon sequencing and to evaluate its potential value as a biomarker for the cancer of the bile duct, pancreas, and gallbladder. Results: We enrolled patients who were diagnosed with cancer, cystic lesions, and inflammation of the pancreaticobiliary tract. The study cohort comprised 244 patients. We extracted microbiome-derived DNA from the bile juice in surgically resected gallbladders. The microbiome composition was not significantly different according to lesion position and cancer type in terms of alpha and beta diversity. We found a significant difference in the relative abundance of Campylobacter, Citrobacter, Leptotrichia, Enterobacter, Hungatella, Mycolicibacterium, Phyllobacterium and Sphingomonas between patients without and with lymph node metastasis. Conclusions: There was a significant association between the relative abundance of certain microbes and overall survival prognosis. These microbes showed association with good prognosis in cholangiocarcinoma, but with poor prognosis in pancreatic adenocarcinoma, and vice versa. Our findings suggest that pancreaticobiliary tract cancer patients have an altered microbiome composition, which might be a biomarker for distinguishing malignancy.

    DOI: 10.1186/s12866-022-02557-3

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  • Yokoyama S., Iwaya H., Akahane T., Hamada T., Higashi M., Hashimoto S., Tanoue S., Ohtsuka T., Ido A., Tanimoto A. .  Sequential evaluation of MUC promoter methylation using next-generation sequencing-based custom-made panels in liquid-based cytology specimens of pancreatic cancer .  Diagnostic Cytopathology50 ( 11 ) 499 - 507   2022.11

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    Language:Japanese   Publisher:Diagnostic Cytopathology  

    Background: As liquid-based cytology (LBC) specimens preserve high-quality DNA, clinical sequencing of LBC specimens using next-generation sequencing (NGS) is becoming a common strategy. This study aimed to evaluate the feasibility of NGS-based custom-made panels for evaluating MUC promoter methylation in LBC specimens. Methods: Thirty-one patients with pancreatic cancer were enrolled in the study. Cancer tissue samples were obtained using endoscopic ultrasound-guided fine-needle aspiration/biopsy (EUS-FNA/FNB). LBC, formalin-fixed paraffin-embedded (FFPE), and fresh frozen specimens were prepared for DNA extraction after pathological diagnosis. These specimens were then subjected to NGS analysis using custom-made cancer gene screening and methylation panels comprising 28 cancer-related genes and 13 gene promoter regions, including MUC1, MUC2, and MUC4. Results: The success rate of NGS using the cancer gene panel was comparable among the LBC, FFPE, and frozen specimens, and the presence of cancer cell-derived somatic mutations in each specimen was confirmed. The specimens were then tested using a methylation panel that revealed the sequential methylation status of CpG islands located in the promoter regions of MUC genes. The methylation status results obtained from LBC specimens were almost comparable with those from FFPE and frozen specimens. Conclusions: MUC and other gene methylation analyses using an NGS-based panel were successfully performed in residual LBC specimens obtained by EUS-FNA/FNB. Therefore, this approach provides an alternative source of molecular tests for gene mutations and methylation, especially in the pancreatic cancers, which are often unresectable and unsuitable for obtaining FFPE specimens.

    DOI: 10.1002/dc.25022

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  • Kirishima M., Akahane T., Higa N., Suzuki S., Ueno S., Yonezawa H., Uchida H., Hanaya R., Yoshimoto K., Shimajiri S., Kitazono I., Tanimoto A. .  IDH-mutant astrocytoma with an evolutional progression to CDKN2A/B homozygous deletion and NTRK fusion during recurrence: A case report .  Pathology Research and Practice239   154163   2022.11

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    We reported a case of molecularly defined isocitrate dehydrogenase (IDH)-mutant astrocytoma that recurred twice with aggressive behavior and increased anaplastic morphology. Primary and recurrent tumors were analyzed using custom-made DNA-based cancer gene and RNA-based fusion panels for next-generation sequencing (NGS). NGS analyses revealed that recurrent astrocytoma, in addition to IDH1 and tumor protein 53 mutations detected in the primary lesion, harbored cyclin-dependent kinase inhibitor (CDKN) 2 A/B homozygous deletion and neurotrophic tropomyosin receptor kinase 2 (NTRK2) fusion genes that consisted of golgin A1- and cyclin-dependent kinase 5 regulatory subunit associated protein 2-NTRK2 fusions. Anaplasia and necrosis were observed in the recurrent tumors, but not in the primary lesion. Therefore, the integrative diagnosis was primary IDH-mutant astrocytoma grade 2 and recurrent IDH-mutant astrocytoma grade 4 with NTRK2 fusions. This is a worthwhile report describing a case of IDH-mutant astrocytoma that showed genomic evolution during tumor recurrence. Our report suggests that NTRK fusion and CDKN2A/B homozygous deletion promote high-grade transformation and indicate an unfavorable prognosis of IDH-mutant astrocytoma.

    DOI: 10.1016/j.prp.2022.154163

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  • HIGA Nayuta, AKAHANE Toshiaki, YOKOYAMA Seiya, YONEZAWA Hajime, UCHIDA Hiroyuki, FUJIO Shingo, KIRISHIMA Mari, TAKIGAWA Kosuke, HATA Nobuhiro, TOH Keita, YAMAMOTO Junkoh, HANAYA Ryosuke, TANIMOTO Akihide, YOSHIMOTO Koji .  Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel .  Neurologia medico-chirurgica62 ( 9 ) 391 - 399   2022.9

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    Language:English   Publisher:The Japan Neurosurgical Society  

    <p>Rapid technological advances in molecular biology, including next-generation sequencing, have identified key genetic alterations in central nervous system (CNS) tumors. Accordingly, the fifth edition of the World Health Organization (WHO) CNS tumor classification was published in 2021. We analyzed 303 patients with diffuse glioma using an amplicon-based glioma-tailored gene panel for detecting 1p/19q codeletion and driver gene mutations such as <i>IDH1/2</i>, <i>TERTp</i>, <i>EGFR</i>, and <i>CDKN2A/B</i> on a single platform. Within glioblastomas (GBMs), the most commonly mutated genes were <i>TERTp</i>, <i>TP53</i>, <i>PTEN</i>, <i>NF1</i>, and <i>PDGFRA</i>, which was the most frequently mutated tyrosine kinase receptor in GBM, followed by <i>EGFR</i>. The genes that most commonly showed evidence of loss were <i>PTEN</i>, <i>CDKN2A/B</i>, and <i>RB1</i>, whereas the genes that most commonly showed evidence of gain/amplification were <i>EGFR</i>, <i>PDGFRA</i>, and <i>CDK4</i>. In 22 grade III oligodendroglial tumors, 3 (14%) patients had <i>CDKN2A/B</i> homozygous deletion, and 4 (18%) patients had <i>ARID1A</i> mutation. In grade III oligodendroglial tumors, an <i>ARID1A</i> mutation was associated with worse progression-free survival. Reclassification based on the WHO 2021 classification resulted in 62.5% of grade II/III <i>isocitrate dehydrogenase</i> (<i>IDH</i>) -wildtype astrocytomas being classified as <i>IDH</i>-wildtype GBM and 37.5% as not elsewhere classified. In summary, our glioma-tailored gene panel was applicable for molecular diagnosis in the WHO 2021 classification. In addition, we successfully reclassified the 303 diffuse glioma cases based on the WHO 2021 classification and clarified the genetic profile of diffuse gliomas in the Japanese population.</p>

    DOI: 10.2176/jns-nmc.2022-0103

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  • Higa Nayuta, Akahane Toshiaki, Yokoyama Seiya, Yonezawa Hajime, Uchida Hiroyuki, Fujio Shingo, Kirishima Mari, Takigawa Kosuke, Hata Nobuhiro, Toh Keita, Yamamoto Junkoh, Hanaya Ryosuke, Tanimoto Akihide, Yoshimoto Koji .  神経膠腫に特化した遺伝子パネルを用いた、びまん性神経膠腫日本人患者300例の分子遺伝学的プロファイル(Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel) .  Neurologia medico-chirurgica62 ( 9 ) 391 - 399   2022.9神経膠腫に特化した遺伝子パネルを用いた、びまん性神経膠腫日本人患者300例の分子遺伝学的プロファイル(Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel)

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    Language:English   Publisher:(一社)日本脳神経外科学会  

    日本人患者のびまん性神経膠腫にみられる、分子遺伝学的プロファイルについて調査した。著者等の大学で収集した、びまん性神経膠腫患者303例の腫瘍組織試料を用いて、神経膠腫に特化した遺伝子パネルから、分子遺伝学的プロファイルを解析した。その結果、膠芽腫(GBM)患者185例に最も変異が多く認められた遺伝子は、TERTp遺伝子、TP53遺伝子、PTEN遺伝子、NF1遺伝子とPDGFRA遺伝子であった。また、欠失が最も多く認められた遺伝子は、PTEN遺伝子およびCDKN2A/B及びRB1遺伝子で、増加/増幅が最も多く認められた遺伝子は、EGFR遺伝子とPDGFRA遺伝子およびCDK4遺伝子であった。さらに、グレードIII乏突起膠腫22例のうち3例には、CDKN2A/B遺伝子のホモ接合性欠失が、4例にはARID1A遺伝子変異が検出され、ARID1A遺伝子変異が無増悪生存転帰不良と関連することが示唆された。なお、WHO脳腫瘍分類2021により、グレードII/IIIでIDH野生型星状細胞腫の62.5%が、IDH野生型のGBMに再分類された。本報により、神経膠腫に特化した遺伝子パネルが、WHO脳腫瘍分類2021に準じた分子診断に適用可能であることが確認された。

  • Kotoku R., Yanazume S., Kuroda T., Kobayashi Y., Kitazono I., Akahane T., Tanimoto A., Kobayashi H. .  Two Components of Variant Profiles in Primary Vaginal Carcinosarcoma via Next-Generation Sequencing and a Literature Review .  International Journal of Surgical Pathology30 ( 3 ) 288 - 294   2022.5

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    Language:Japanese   Publisher:International Journal of Surgical Pathology  

    Primary vaginal carcinosarcoma (VCS) is an extremely rare and aggressive tumor consisting of admixed malignant epithelial and mesenchymal elements. We report a case of VCS that was subjected to analysis by immunohistochemistry and next-generation sequencing (NGS). A 53-year-old woman with post-menopausal vaginal bleeding underwent surgical excision followed by concurrent chemoradiation. A well demarcated tumor was growing in a discontinuous fashion at a location some distance from both the cervix and vulva. Microscopically, the tumor consisted of adenocarcinoma components and sarcoma components consisting of a sheet-like growth of spindle-shaped cells, and we diagnosed this tumor as primary vaginal carcinosarcoma. NGS analysis of each component identified the following variants, TP53, PIK3CA, KRAS and FBXW7. A comparison of microsatellite instability (MSI) and tumor mutation burden (TMB) showed that within both tissues the sarcomatous components had a higher MSI and TMB than the carcinomatous components. This case supports “a monoclonal theory” with the genome profile being similar to other malignant mixed Müllerian tumors.

    DOI: 10.1177/10668969211037915

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  • Higa N., Akahane T., Yokoyama S., Yonezawa H., Uchida H., Takajo T., Otsuji R., Hamada T., Matsuo K., Kirishima M., Hata N., Hanaya R., Tanimoto A., Yoshimoto K. .  Prognostic impact of PDGFRA gain/amplification and MGMT promoter methylation status in patients with IDH wild-type glioblastoma .  Neuro-Oncology Advances4 ( 1 ) vdac097   2022.1

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    Language:Japanese   Publisher:Neuro-Oncology Advances  

    Background: Platelet-derived growth factor receptor alpha (PDGFRA) is the second most frequently mutated tyrosine kinase receptor in glioblastoma (GBM). However, the prognostic impact of PDGFRA amplification on GBM patients remains unclear. Herein, we evaluated this impact by retrospectively analyzing outcomes of patients with IDH wild-type GBM. Methods: Using a custom-made oncopanel, we evaluated PDGFRA gain/amplification in 107 GBM samples harboring wild-type IDH, along with MGMT promoter (MGMTp) methylation status. Results: We detected PDGFRA gain/amplification in 31 samples (29.0%). PDGFRA gain/amplification predicted poor prognosis (P =. 003). Compared to unamplified PDGFRA, PDGFRA gain/amplification in GBM was associated with higher patient age (P =. 031), higher Ki-67 score (P =. 019), and lower extent of surgical resection (P =. 033). Unmethylated MGMTp also predicted poor prognosis (P =. 005). As PDGFRA gain/amplification and unmethylated MGMTp were independent factors for poor prognosis in multivariate analyses, we grouped GBM cases based on PDGFRA and MGMTp status: poor (PDGFRA gain/amplification and unmethylated MGMTp), intermediate (PDGFRA gain/amplification or unmethylated MGMTp), and good (PDGFRA intact and methylated MGMTp) prognosis. The Kaplan-Meier survival analysis indicated that these groups significantly correlated with the OS of GBM patients (P <. 001). Conclusions: Here we report that PDGFRA gain/amplification is a predictor of poor prognosis in IDH wild-type GBM. Combining PDGFRA gain/amplification with MGMTp methylation status improves individual prognosis prediction in patients with IDH wild-type GBM.

    DOI: 10.1093/noajnl/vdac097

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  • Kirishima M. .  Integrated diagnosis of adult-type glioma according to 2021 World Health Organization classification: Analysis of 184 cases using a custom-made next-generation sequencing panel .  Pathology International   2022

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    Language:Japanese   Publisher:Pathology International  

    DOI: 10.1111/pin.13197

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  • Kobayashi Y. .  Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel .  Pathology and Oncology Research27   1610013   2021.12Reviewed

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    DOI: 10.3389/pore.2021.1610013

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  • Kitazono I. .  Human Papilloma Virus 18-Positive Submucosal Small Cell Neuroendocrine Carcinoma of the Vagina: An Immunohistochemical and Genomic Study .  International Journal of Surgical Pathology29 ( 8 ) 870 - 876   2021.12Reviewed

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    Language:English   Publisher:International Journal of Surgical Pathology  

    DOI: 10.1177/10668969211007569

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  • Shinden Y, Saho H, Nomoto Y, Nagata A, Minami K, Nakajo A, Akahane T, Hiraki T, Tanimoto A, Owaki T, Kijima Y, Natsugoe S .  Breast cancer with an intraductal component that was proven genetically to be metastasis of contralateral breast cancer: a case report. .  Surgical case reports6 ( 1 ) 215   2020.8Breast cancer with an intraductal component that was proven genetically to be metastasis of contralateral breast cancer: a case report.

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    DOI: 10.1186/s40792-020-00966-y

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  • Yokoyama S. .  Predicted Prognosis of Patients with Pancreatic Cancer by Machine Learning .  Clinical Cancer Research26 ( 10 ) 2411 - 2421   2020.5Reviewed

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    Language:English   Publisher:Clinical Cancer Research  

    DOI: 10.1158/1078-0432.CCR-19-1247

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  • Toshiaki Akahane, Naoki Kanomata, Akihide Tanimoto, Takuya Moriya et al .  Targeted next-generation sequencing assays using triplet samples of normal breast tissue, primary breast cancer, and recurrent/metastatic lesions .  BMC Cancer   2020Targeted next-generation sequencing assays using triplet samples of normal breast tissue, primary breast cancer, and recurrent/metastatic lesionsReviewed

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    Authorship:Lead author   Language:English   Publishing type:Research paper (scientific journal)  

    Other Link: https://bmccancer.biomedcentral.com/articles/10.1186/s12885-020-07432-w

  • Nayuta Higa, Toshiaki Akahane, Akihide Tanimoto, Koji Yoshimoto et al .  A tailored next-generation sequencing panel identified distinct subtypes of wildtype IDH and TERT promoter glioblastomas .  Cancer Science111 ( 10 ) 3902 - 3911   2020A tailored next-generation sequencing panel identified distinct subtypes of wildtype IDH and TERT promoter glioblastomasReviewed

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  • Toshiaki Akahane, Ikumi Kitazono, Akihide Tanimoto et al .  Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens .  BMC Medical Genomics   2020Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimensReviewed

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    Authorship:Lead author   Language:English   Publishing type:Research paper (scientific journal)  

    Other Link: https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-020-00753-6

  • Tomomi Yamaguchi, Toshiaki Akahane, Akihide Tanimoto et al .  Next-generation sequencing in residual liquid-based cytology specimens for cancer genome analysis .  Diagnostic Cytopathology   2020Next-generation sequencing in residual liquid-based cytology specimens for cancer genome analysisReviewed

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    Other Link: https://onlinelibrary.wiley.com/doi/10.1002/dc.24511

  • Toshiaki Akahane, Tomomi Yamaguchi, Yasutaka Kato, Akihide Tanimoto et al .  Comprehensive validation of liquid-based cytology specimens for next-generation sequencing in cancer genome analysis .  PLOS ONE   2019Comprehensive validation of liquid-based cytology specimens for next-generation sequencing in cancer genome analysisReviewed

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    Authorship:Lead author   Language:English   Publishing type:Research paper (scientific journal)  

    Other Link: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0217724

  • Bandoh N, Akahane T, Goto T, Kono M, Ichikawa H, Sawada T, Yamaguchi T, Nakano H, Kawase Y, Kato Y, Kamada H, Harabuchi Y, Shimizu K, Nishihara H .  Targeted next-generation sequencing of cancer-related genes in thyroid carcinoma: A single institution's experience. .  Oncology letters16 ( 6 ) 7278 - 7286   2018.12Targeted next-generation sequencing of cancer-related genes in thyroid carcinoma: A single institution's experience.Reviewed

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    DOI: 10.3892/ol.2018.9538

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  • Nobuyuki Bandoh, Toshiaki Akahane et al .  Targeted next-generation sequencing of cancer-related genes in thyroid carcinoma: A single institution's experience .  Oncology Letters16 ( 6 ) 7278 - 7286   2018Targeted next-generation sequencing of cancer-related genes in thyroid carcinoma: A single institution's experienceReviewed

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  • Yae Kanai, Hiroshi Nishihara, Toshiaki Akahane et al. .  The Japanese Society of Pathology Guidelines on the handling of pathological tissue samples for genomic research: Standard operating procedures based on empirical analyses .  Pathology International68 ( 2 ) 63 - 90   2018The Japanese Society of Pathology Guidelines on the handling of pathological tissue samples for genomic research: Standard operating procedures based on empirical analysesReviewed

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  • 山口 朋美, 大貫 なつみ, 赤羽 俊章, 坂東 伸幸, 田中 伸哉 .  甲状腺穿刺吸引細胞診におけるLBCプレップ2を用いた液状処理細胞診(LBC) .  日本臨床細胞学会雑誌56 ( 3 ) 130 - 136   2017.5甲状腺穿刺吸引細胞診におけるLBCプレップ2を用いた液状処理細胞診(LBC)

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    Language:Japanese   Publisher:(公社)日本臨床細胞学会  

    目的:甲状腺結節に対するLBCプレップ2を用いた報告はほとんどみられない。今回われわれは、LBCプレップ2を使用した甲状腺穿刺吸引細胞診での診断精度と細胞像の特徴を検討した。方法:2011年6月〜2015年5月に甲状腺穿刺吸引細胞診を施行した887病変を対象とした。LBCプレップ2を用いて標本を作製し、甲状腺癌取り扱い規約第7版を用いて判定を行った。成績:887病変のうち組織診断と対比できた204病変は意義不明を除くと感度98.0%、特異度89.3%、正診率96.6%であった。赤血球の多くは溶血し、その破砕物が背景に出現していた。コロイドの性状はBDシュアパスTM法と一部異なっていた。腺腫様甲状腺腫の濾胞上皮細胞集塊辺縁にライトグリーン好染性の境界明瞭な基底膜様物質を認めた。乳頭癌の核所見は観察しやすくThinPrepTM法より優れていた。結論:LBCプレップ2を用いた当院での成績は他LBC法の報告に劣らなかった。細胞所見は他LBC法と異なる点があることに注意する必要がある。(著者抄録)

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  • 【がん遺伝子パネル検査と病理診断】遺伝子変異の解釈に有用なウェブサイト がんゲノム医療に関わる病理医に向けて

    谷本 昭英, 赤羽 俊章

    病理と臨床   42 ( 1 )   0019 - 0028   2024.1

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    Language:Japanese   Publisher:(株)文光堂  

  • FOCUS 診断用カスタムがん遺伝子パネル検査を用いた脳腫瘍の統合分子病理診断

    赤羽 俊章

    検査と技術   51 ( 10 )   1198 - 1201   2023.10

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    Language:Japanese   Publisher:(株)医学書院  

    <文献概要>はじめに わが国におけるがんゲノム医療は,治療薬選定のために数遺伝子を調べるコンパニオン診断から,数百遺伝子のシーケンス結果をもとにエキスパートパネルを開催し,分子標的薬の適応の可否を決定する遺伝子パネル検査まで,多岐にわたるようになり,がん医療の高度化と均てん化が図られ始めている.一方で,これらのような分子標的薬の選択だけでなく,腫瘍分類にもゲノム情報に基づいた解析結果が反映されるようになった.特に脳腫瘍のWHO分類改訂第5版では,ゲノムプロファイルを加味した分子診断および悪性度評価が導入され,WHO分類に準拠する限りは,神経膠腫の組織分類にゲノム解析が必須となった.

  • 2021年WHO分類による成人神経膠腫の統合診断 オーダーメイドによる次世代シーケンシングパネルを用いた184症例の解析(Integrated diagnosis of adult-type glioma according to 2021 World Health Organization classification: Analysis of 184 cases using a custom-made next-generation sequencing panel)

    Kirishima Mari, Akahane Toshiaki, Higa Nayuta, Yonezawa Hajime, Uchida Hiroyuki, Kitazono Ikumi, Higashi Michiyo, Yoshimoto Koji, Tanimoto Akihide

    Pathology International   72 ( 3 )   207 - 210   2022.3

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    Language:English   Publisher:John Wiley & Sons Australia, Ltd  

  • 検査(ライブラリー作成、次世代シークエンサー)に関する用語

    赤羽 俊章

    臨床検査 増刊号   64 ( 10 )   1139 - 1159   2020.10

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  • 【がんゲノム医療用語事典】検査(ライブラリー作製,次世代シークエンサー)に関する用語

    赤羽 俊章

    臨床検査   64 ( 10 )   1139 - 1159   2020.10

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  • 遺伝子パネル検査を利用した婦人科腫瘍の分子病理統合診断

    赤羽 俊章, 北薗 育美, 小林 裕明, 谷本 昭英

    鹿児島産科婦人科学会雑誌   28   1 - 4   2020.3

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    鹿児島大学病院では、これからのゲノム医療に対応するため、産婦人科学教室と共同で婦人科腫瘍の遺伝子パネル検査の臨床研究を昨年から開始した。高品質のホルマリン固定パラフィン包埋検体を作成する取り組みや、液状処理細胞診検体を使用したパネル検査の基礎研究を行っている。当講座では独自の遺伝子パネル検査を開発し臨床研究に使用している。産婦人科学教室との臨床研究で使用したパネルは、分子標的薬関連・ミスマッチ修復関連・NCCNガイドライン関連遺伝子を含む60遺伝子と17ヶ所のマイクロサテライト領域を標的としたオリジナルの固形腫瘍専用の遺伝子パネル検査である。本稿では以下の項目で解説した。1)遺伝子パネル検査、2)類内膜腺癌で認められる遺伝子異常、3)カスタム遺伝子パネル検査。

  • 検査(ライブラリー作成、次世代シークエンサー)に関する用語

    赤羽 俊章

    臨床検査   63 ( 8 )   934 - 939   2019.8

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  • 【知っておきたい がんゲノム医療用語集】検査(ライブラリー作製,次世代シークエンサー)に関する用語

    赤羽 俊章

    臨床検査   63 ( 8 )   934 - 939   2019.8

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  • 【知っておきたい がんゲノム医療用語集】エキスパートパネル&治療,治験,薬剤に関する用語

    須賀 淳子, 赤羽 俊章

    臨床検査   63 ( 8 )   952 - 966   2019.8

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  • パラフィンブロックから病理組織診断とゲノム検査の両方の検査を両立させるには?

    赤羽 俊章

    検査と技術   47 ( 5 )   627 - 630   2019.5

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  • 臨床医からの質問に答える パラフィンブロックから病理組織診断とゲノム検査の両方の検査を両立させるには?

    赤羽 俊章, 山口 朋美, 柳田 絵美衣, 西田 ゆかり, 西原 広史, 谷本 昭英

    検査と技術   47 ( 5 )   627 - 630   2019.5

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    <文献概要>はじめに 今回,私(赤羽)が執筆するテーマは,"パラフィンブロックから病理組織診断とゲノム検査の両方の検査を両立させるには?"です.では,いきなり答えですが,完全に両立させる方法はありません……としてしまうと終ってしまいます.ですから頑張って続きを書きます.この病理組織診断とゲノム検査は,相反します.完全にそれぞれを理想的な状態で両立させるという意味では,"ありません"ということになってしまうわけです.というわけで,それぞれの落とし所を模索しながら本稿で述べたいと思います.

  • PI3K経路分子をドライバーとする悪性腫瘍の遺伝子プロファイル病理診断

    赤羽 俊章, 谷本 昭英

    医学のあゆみ   269 ( 3 )   207 - 213   2019.4

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  • 【悪性腫瘍の病理・遺伝子診断に基づくプレシジョンメディシン】PI3K経路分子をドライバーとする悪性腫瘍の遺伝子プロファイル病理診断

    赤羽 俊章, 谷本 昭英

    医学のあゆみ   269 ( 3 )   207 - 213   2019.4

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    ホスファチジルイノシトール3-キナーゼ(PI3K)経路に関わる遺伝子の変化は、さまざまな悪性腫瘍に認められている。そのため、治療標的や病理診断の補助マーカー、腫瘍マーカーとしても注目されるシグナル伝達経路である。本稿ではとくに、高率にPI3K経路の遺伝子に異常が認められる乳癌、子宮体部類内膜腺癌、神経膠腫について、実際の臨床例や臨床研究の結果とともに述べる。乳癌においてはPI3K経路の変異のほとんどがPIK3CAの変異であるが、AKT1変異を認めた乳癌の1例を経験したので提示したい。また子宮体部の類内膜腺癌は病理組織学的にはType 1とType 2に分類され、両者はゲノムプロファイルも異なることが知られている。当院のがん遺伝子診断外来症例のなかでERBB2増幅を認めたType 2類内膜腺癌の1例を経験したので紹介したい。神経膠腫は、先進的に分子異常と病理診断による統合診断がされてきた腫瘍である。神経膠芽腫におけるPI3K経路の異常としては、ホスファターゼテンシンホモログ(PTEN)に高頻度に機能欠失変異を認める。著者らの講座では脳腫瘍診断用の遺伝子パネル検査の臨床研究を行っており、そこから得られたPTENの知見も提示したい。(著者抄録)

  • 【現場で"パッ"と使える 免疫染色クイックガイド】(3章)免疫染色に強くなる! 免疫染色の極意 その他

    松岡 亮介, 塩竈 和也, 丸 喜明, 澁木 康雄, 柿島 裕樹, 赤羽 俊章, 赤羽 智子

    検査と技術   46 ( 9 )   1065 - 1077   2018.9

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  • ゲノム研究への病理組織検体取扱いに関する日本病理学会のガイドライン 実証分析に基づく標準実施要領(The Japanese Society of Pathology Guidelines on the handling of pathological tissue samples for genomic research: Standard operating procedures based on empirical analyses)

    Kanai Yae, Nishihara Hiroshi, Miyagi Yohei, Tsuruyama Tatsuhiro, Taguchi Kenichi, Katoh Hiroto, Takeuchi Tomoyo, Gotoh Masahiro, Kuramoto Junko, Arai Eri, Ojima Hidenori, Shibuya Ayako, Yoshida Teruhiko, Akahane Toshiaki, Kasajima Rika, Morita Kei-ichi, Inazawa Johji, Sasaki Takeshi, Fukayama Masashi, Oda Yoshinao

    Pathology International   68 ( 2 )   63 - 90   2018.2

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  • 網羅的がん遺伝子解析による,乳癌プレシジョンメディシンの実践

    西原 広史, 赤羽 俊章

    月刊カレントテラピー   2017.9

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  • 【乳癌ゲノム医療最前線-臨床応用はどこまで進んだか】網羅的がん遺伝子解析による、乳癌プレシジョンメディシンの実践

    西原 広史, 赤羽 俊章

    カレントテラピー   35 ( 9 )   866 - 872   2017.9

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  • FFPE検体を利用した次世代シークエンサーによるクリニカルシークエンス

    西原 広史, 赤羽 俊章, 毛利 普美

    検査と技術   43 ( 6 )   2015.5

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Presentations

  • 平木 翼, 赤羽 俊章, 比嘉 那優大, 堀之内 道子, 吉本 幸司, 谷本 昭英, 西原 広史   鹿児島大学がんゲノム医療への取り組み 神経膠腫用カスタム遺伝子パネルによる脳腫瘍統合診断  

    日本病理学会会誌  2019.4  (一社)日本病理学会

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  • 谷本 昭英, 赤羽 俊章, 西田 ゆかり, 横山 勢也, 平木 翼, 東 美智代, 鈴木 紳介, 上野 真一, 西原 広史   鹿児島大学がんゲノム医療への取り組み ヒトゲノム遺伝子解析センター(仮)の開設について  

    日本病理学会会誌  2019.4  (一社)日本病理学会

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  • 西原 広史, 松岡 亮介, 赤羽 俊章, 柳田 絵美衣, 加藤 容崇   がんゲノム病理診断の実践と病理医の役割について  

    日本病理学会会誌  2018.4  (一社)日本病理学会

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  • 赤羽 俊章, 北薗 育美, 東 美智代, 平木 翼, 霧島 茉莉, 谷本 昭英   エンドサイト細胞診LBC検体を使用した遺伝子パネル検査によるEndometrioid Carcinoma mutation burden解析  

    日本病理学会会誌  2020.3  (一社)日本病理学会

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  • 赤羽 俊章, 山口 朋美, 西田 ゆかり, 竹下 かおり, 窪田 恵美, 宿里 亜李沙, 平木 翼, 北薗 育美, 東 美智代, 谷本 昭英   乳腺LBCの現状と展望 乳腺細胞診LBC検体を使用した遺伝子パネル検査の有用性と適正検体選択の重要性  

    日本臨床細胞学会雑誌  2020.5  (公社)日本臨床細胞学会

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  • 赤羽 俊章, 西原 広史, 柳田 絵美衣, 山口 朋美, 大井 恭代, 原田 大, 飛田 陽, 谷本 昭英   乳腺LBC細胞診の展望 乳腺LBC検体を使用したクリニカルシークエンスの実践  

    日本臨床細胞学会雑誌  2018.4  (公社)日本臨床細胞学会

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  • 赤羽 俊章   乳腺細胞診の可能性と将来展望〜これからの乳癌診療にどのように活用するか〜 乳腺細胞診LBC検体を使用した遺伝子パネル検査の有用性と適正検体選択の重要性  

    日本臨床細胞学会雑誌  2021.5  (公社)日本臨床細胞学会

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  • 北薗 育美, 赤羽 俊章, 谷本 昭英   充実性増殖部分を含む子宮内膜癌の統合的分子病理診断の試み  

    日本病理学会会誌  2021.3  (一社)日本病理学会

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  • 鹿股 直樹, 赤羽 俊章, 山下 哲正, 紅林 淳一, 森谷 卓也   再発・転移病変と乳癌原発巣との比較ターゲット次世代シークエンサー解析  

    日本乳癌学会総会プログラム抄録集  2019.7  (一社)日本乳癌学会

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  • 簗詰 伸太郎, 牛若 昴志, 戸上 真一, 赤羽 俊章, 小林 裕明   婦人科がんにおける細胞診検体を用いたゲノムパネル検査に関する検討  

    日本臨床細胞学会雑誌  2021.5  (公社)日本臨床細胞学会

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  • 赤羽 俊章, 北薗 育美, 平木 翼, 霧島 茉莉, 田畑 和宏, 東 美智代, 田崎 貴嗣, 谷本 昭英   婦人科腫瘍診断用遺伝子パネルを用いた子宮内膜癌の解析 MSI/POLE症例の病理学的所見比較  

    日本病理学会会誌  2021.3  (一社)日本病理学会

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  • 柳田 絵美衣, 赤羽 俊章, 西原 広史   新時代・体腔液細胞診での診断と精度管理 細胞診検体(体腔液細胞診)でのクリニカルシークエンス・ゲノム解析の可能性  

    日本臨床細胞学会雑誌  2018.4  (公社)日本臨床細胞学会

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  • 比嘉 那優大, 赤羽 俊章, 米澤 大, 内田 裕之, 藤尾 信吾, 横山 勢也, 霧島 茉莉, 濱田 大治, 谷本 昭英, 吉本 幸司   日本人のhigh grade glioma患者における遺伝子変異の特徴  

    Brain Tumor Pathology  2021.5  日本脳腫瘍病理学会

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  • 霧島 茉莉, 赤羽 俊章, 平木 翼, 比嘉 那優大, 吉本 幸司, 谷本 昭英   次世代シークエンサー解析で統合診断を行ったDiffuse Midline Glioma,H3 K27M-mutantの4症例  

    日本病理学会会誌  2020.3  (一社)日本病理学会

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  • 簗詰 伸太郎, 牛若 昴志, 戸上 真一, 赤羽 俊章, 小林 裕明   液状化細胞診検体を用いたゲノムパネル検査に関する検討  

    日本臨床細胞学会雑誌  2020.5  (公社)日本臨床細胞学会

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  • 山口 朋美, 赤羽 俊章, 橋場 なつみ, 坂東 伸幸, 武井 英博   甲状腺LBC標本における濾胞性腫瘍と腺腫様甲状腺腫の鑑別  

    日本臨床細胞学会雑誌  2018.4  (公社)日本臨床細胞学会

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  • 赤羽 俊章, 柳田 絵美衣, 橋場 なつみ, 山口 朋美, 西原 広史   病理検体を使用したクリニカルシークエンス実用化 LBC検体でどこまでできるか?  

    日本臨床細胞学会雑誌  2017.10  (公社)日本臨床細胞学会

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  • 比嘉 那優大, 赤羽 俊章, 横山 勢也, 米澤 大, 内田 裕之, 霧島 茉莉, 平木 翼, 谷本 昭英, 吉本 幸司   神経膠腫診断に特化した遺伝子パネルによるGlioblastoma、IDH-wildの解析結果  

    Brain Tumor Pathology  2020.8  日本脳腫瘍病理学会

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  • 赤羽 俊章, 比嘉 那優大, 霧島 茉莉, 内田 裕之, 米澤 大, 坂本 一平, 野原 祥夫, 吉本 幸司, 谷本 昭英   神経膠腫診断用パネル検査で見つかった新規EGFR variantを有する神経膠腫の病理組織学的特徴  

    Brain Tumor Pathology  2021.5  日本脳腫瘍病理学会

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  • 赤羽 俊章, 中島 恵, 川見 弘之, 難波 清, 原田 大, 飛田 陽, 谷本 昭英, 西原 広史   網羅的遺伝子解析スクリーニングはLuminal AR乳癌に対するアンドロゲン受容体拮抗薬効果予測になりえるか?  

    日本乳癌学会総会プログラム抄録集  2018.5  (一社)日本乳癌学会

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  • 米澤 大, 比嘉 那優大, 内田 裕之, 赤羽 俊章, 横山 勢也, 霧島 茉莉, 平木 翼, 谷本 昭英, 吉本 幸司   脳腫瘍に特化したがん遺伝子パネル検査の実臨床における有用性  

    Brain Tumor Pathology  2021.5  日本脳腫瘍病理学会

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  • 谷本 昭英, 赤羽 俊章, 比嘉 那優大, 吉本 幸司   脳腫瘍の病理 カスタムNGSパネルによる神経膠腫の統合分子病理診断の実践と応用  

    日本病理学会会誌  2021.3  (一社)日本病理学会

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  • 赤羽 俊章, 比嘉 那優大, 霧島 茉莉, 平木 翼, 北薗 育美, 内田 裕之, 米澤 大, 吉本 幸司, 谷本 昭英   脳腫瘍の遺伝子診断とゲノム医療1 神経膠腫診断用パネルKBT-48で認めたEGFR mutation gliomaの病理組織学的所見  

    Brain Tumor Pathology  2020.8  日本脳腫瘍病理学会

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  • 比嘉 那優大, 赤羽 俊章, 米澤 大, 坂元 顕久, 内田 裕之, 霧島 茉莉, 平木 翼, 谷本 昭英, 吉本 幸司   脳腫瘍診断に特化したOncoPanelの有用性  

    Brain Tumor Pathology  2019.5  日本脳腫瘍病理学会

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  • 赤羽 俊章   膵細胞診の可能性と将来展望 EUS-FNA LBC検体を用いた膵癌ゲノム・遺伝子パネル検査  

    日本臨床細胞学会雑誌  2020.11  (公社)日本臨床細胞学会

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  • 鹿股 直樹, 赤羽 俊章, 森谷 卓也   臓器病理学の最近の進歩 乳癌の病理診断に関するトピックス 病理学的サブタイプ分類に関する診断と問題点(Assessment and problems of breast cancer subtyping)  

    日本病理学会会誌  2019.4  (一社)日本病理学会

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  • 赤羽 俊章, 西田 ゆかり, 竹下 かおり, 窪田 恵美, 宿里 亜李沙, 平木 翼, 北薗 育美, 東 美智代, 谷本 昭英   LBC残余検体を用いた遺伝子パネル検査のための基礎研究  

    日本臨床細胞学会雑誌  2019.5  (公社)日本臨床細胞学会

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  • 赤羽 俊章, 谷本 昭英   LBC検体からの核酸抽出とカスタム遺伝子パネルを用いた統合分子病理診断  

    日本臨床細胞学会雑誌  2021.10  (公社)日本臨床細胞学会

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  • 北薗 育美, 赤羽 俊章, 堀之内 道子, 谷本 昭英   Hypermutatedな子宮内膜癌 カスタムパネル遺伝子検査とMMR免疫組織化学による検討  

    日本病理学会会誌  2020.3  (一社)日本病理学会

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  • 内田 裕之, 赤羽 俊章, 比嘉 那優大, 米澤 大, 霧島 茉莉, 谷本 昭英, 吉本 幸司   Lower-grade gliomaの遺伝子プロファイル診断と予後についての検討  

    Brain Tumor Pathology  2021.5  日本脳腫瘍病理学会

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  • 赤羽 俊章, 山口 朋美, 武井 英博, 谷本 昭英   LBC検体を使用するカスタム融合遺伝子パネル検査 甲状腺・唾液腺の統合細胞診断  

    日本臨床細胞学会雑誌  2022.5  (公社)日本臨床細胞学会

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  • 赤羽 俊章, 比嘉 那優大, 霧島 茉莉, 内田 裕之, 米澤 大, 吉本 幸司, 谷本 昭英   頭頸部・脳腫瘍用カスタム融合遺伝子パネルで認められた、IDH1変異陽性神経膠腫のNTRK融合遺伝子  

    Brain Tumor Pathology  2022.5  日本脳腫瘍病理学会

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  • 赤羽 俊章, 谷本 昭英   細胞診LBC検体とカスタム遺伝子パネルを用いた統合分子病理診断  

    日本乳癌学会総会プログラム抄録集  2022.6  (一社)日本乳癌学会

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  • 北薗 育美, 赤羽 俊章, 小林 裕介, 簗詰 伸太郎, 小林 裕明, 谷本 昭英   子宮内膜癌POLE-subtypeの病理組織学的特徴  

    日本病理学会会誌  2023.3  (一社)日本病理学会

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  • 赤羽 俊章, 北薗 育美, 小林 裕介, 簗詰 伸太郎, 岩切 かおり, 小林 裕明, 谷本 昭英   卵巣癌・子宮体癌症例における細胞診検体(LBC検体を含む)を用いたNGSの有用性 LBC検体をもちいた婦人科腫瘍診断のためのカスタム遺伝子パネル検査スクリーニング  

    日本臨床細胞学会雑誌  2023.5  (公社)日本臨床細胞学会

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  • 谷本 昭英, 赤羽 俊章   がん遺伝子パネル検査のカスタマイズ化 神経膠腫の統合分子病理診断のためのカスタムパネルの開発と運用  

    日本臨床細胞学会雑誌  2022.5  (公社)日本臨床細胞学会

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  • 赤羽 俊章, 坂本 一平, 比嘉 那優大, 霧島 茉莉, 牧野 隆太郎, 米澤 大, 内田 裕之, 吉本 幸司, 花谷 亮典, 谷本 昭英   がんゲノム診断とバイオインフォマティクス 神経膠腫の統合分子病理診断のための自動レポーティングシステムの構築とバイオインフォマティクスの重要性  

    Brain Tumor Pathology  2023.5  日本脳腫瘍病理学会

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  • 北薗 育美, 赤羽 俊章, 古家 淳行, 亀澤 雅, 窪田 恵美, 切田 ゆかり, 簗詰 伸太郎, 小林 裕明, 谷本 昭英   頸部細胞診に出現する子宮内膜癌細胞 内膜癌の分子分類による比較  

    日本臨床細胞学会雑誌  2023.10  (公社)日本臨床細胞学会

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  • 霧島 茉莉, 赤羽 俊章, 横山 勢也, 比嘉 那優大, 米澤 大, 内田 裕之, 花谷 亮典, 吉本 幸司, 谷本 昭英   膠芽腫の細胞形態とゲノム変化による予後推定の試み  

    日本病理学会会誌  2024.2  (一社)日本病理学会

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  • 霧島 茉莉, 赤羽 俊章, 横山 勢也, 比嘉 那優大, 米澤 大, 内田 裕之, 花谷 亮典, 吉本 幸司, 谷本 昭英   膠芽腫の形態とゲノム変化の相関  

    日本病理学会会誌  2023.10  (一社)日本病理学会

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  • 濱田 大治, 横山 勢也, 赤羽 俊章, 松尾 恵, 谷本 昭英   脳腫瘍に対する病理研究者としての克服戦略 ゲノム編集による膠芽腫の遺伝子変異の機能解析  

    日本病理学会会誌  2023.3  (一社)日本病理学会

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  • 比嘉 那優大, 赤羽 俊章, 米澤 大, 横山 勢也, 牧野 隆太郎, 内田 裕之, 霧島 茉莉, 吉本 幸司, 谷本 昭英, 花谷 亮典   脳腫瘍1 小児脳腫瘍におけるカスタムDNA/RNAパネルを用いたクリニカルシーケンス  

    小児の脳神経  2024.4  (一社)日本小児神経外科学会

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  • 小林 裕介, 北薗 育美, 赤羽 俊章, 簗詰 伸太郎, 田畑 和宏, 田崎 貴嗣, 水野 美香, 神尾 真樹, 戸上 真一, 小林 裕明, 谷本 昭英   子宮体癌のPOLE-mutation subtypeとNo Specific Molecular Profile subtype症例を鑑別する潜在的マーカーとしてのATM免疫組織化学染色(ATM Immunohistochemistry as a Potential Marker for the Differential Diagnosis of No Specific Molecular Profile and POLE-mutation Subtype Endometrioid Carcinoma)  

    日本婦人科腫瘍学会学術講演会プログラム・抄録集  2022.7  (公社)日本婦人科腫瘍学会

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  • 簗詰 伸太郎, 小林 裕介, 北薗 育美, 切田 ゆかり, 永田 真子, 水野 美香, 戸上 真一, 赤羽 俊章, 谷本 昭英, 小林 裕明   子宮体癌におけるTMB-high症例は液状化細胞診で予測可能か?  

    日本臨床細胞学会雑誌  2023.10  (公社)日本臨床細胞学会

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  • 北薗 育美, 赤羽 俊章, 小林 裕介, 簗詰 伸太郎, 小林 裕明, 谷本 昭英   内膜癌のカスタム遺伝子パネル検査の意義 POLE変異例の多様性  

    日本病理学会会誌  2023.10  (一社)日本病理学会

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  • 赤羽 俊章   乳腺細胞診の可能性と将来展望~これからの乳癌診療にどのように活用するか~ 乳腺細胞診LBC検体を使用した遺伝子パネル検査の有用性と適正検体選択の重要性  

    日本臨床細胞学会雑誌  2021.5  (公社)日本臨床細胞学会

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  • 浜田 大治, 横山 勢也, 赤羽 俊章, 松尾 恵, 谷本 昭英   ヒト膠芽腫細胞株におけるゲノム編集はCas9リボ核蛋白質が有効である  

    日本病理学会会誌  2023.3  (一社)日本病理学会

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  • 赤羽 俊章, 霧島 茉莉, 北薗 育美, 田畑 和宏, 東 美智代, 田崎 貴嗣, 谷本 昭英   カスタム遺伝子パネル検査を用いた神経膠腫の統合分子病理診断 6年間の運用実績  

    日本病理学会会誌  2024.2  (一社)日本病理学会

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  • 牛若 昴志, 簗詰 伸太郎, 松本 純, 福田 美香, 河村 俊彦, 戸上 真一, 神尾 真樹, 赤羽 俊章, 北薗 育美, 谷本 昭英, 小林 裕明   がん遺伝子検査を行った子宮体部・卵巣の同時性重複癌の2症例  

    日本婦人科腫瘍学会雑誌  2021.1  (公社)日本婦人科腫瘍学会

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  • 牧野 隆太郎, 比嘉 那優大, 赤羽 俊章, 米澤 大, 内田 裕之, 霧島 茉莉, 山本 淳考, 吉本 幸司, 谷本 昭英, 花谷 亮典   がんゲノム診断 日本人膠芽腫患者におけるチロシンキナーゼ受容体変異と臨床像  

    Brain Tumor Pathology  2023.5  日本脳腫瘍病理学会

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  • 簗詰 伸太郎, 小林 祐介, 北薗 育美, 赤羽 俊章, 齋藤 良介, 福田 美香, 水野 美香, 戸上 真一, 谷本 昭英, 小林 裕明   【がんゲノム医療の現状は満足か?】TCGA分類を見据えた婦人科カスタムパネルの有用性は如何に?  

    日本婦人科腫瘍学会学術講演会プログラム・抄録集  2023.7  (公社)日本婦人科腫瘍学会

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  • 赤羽 俊章, 比嘉 那優大, 霧島 茉莉, 米澤 大, 牧野 隆太郎, 内田 裕之, 山本 淳考, 吉本 幸司, 花谷 亮典, 谷本 昭英   WHO新分類(WHO2021)の課題とその克服2:脳腫瘍病理形態診断と分子診断の融合の可能性 脳腫瘍診断用カスタムパネルによるNot Elsewhere Classified(NEC)の再分類  

    Brain Tumor Pathology  2024.5  日本脳腫瘍病理学会

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  • 比嘉 那優大, 赤羽 俊章, 米澤 大, 横山 勢也, 牧野 隆太郎, 内田 裕之, 霧島 茉莉, 吉本 幸司, 谷本 昭英, 花谷 亮典   WHO新分類(WHO2021)の課題とその克服2:脳腫瘍病理形態診断と分子診断の融合の可能性 グリオーマに特化したカスタムDNA/RNAパネルを用いたクリニカルシーケンス  

    Brain Tumor Pathology  2024.5  日本脳腫瘍病理学会

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  • 牧野 隆太郎, 比嘉 那優大, 赤羽 俊章, 米澤 大, 内田 裕之, 高城 朋子, 霧島 茉莉, 吉本 幸司, 谷本 昭英, 花谷 亮典   WHO新分類(WHO2021)の課題とその克服1:脳腫瘍病理形態診断と分子診断の融合の可能性 Molecular Glioblastomaの臨床学的特徴  

    Brain Tumor Pathology  2024.5  日本脳腫瘍病理学会

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  • 浜田 大治, 横山 勢也, 赤羽 俊章, 松尾 恵, 古川 龍彦, 谷本 昭英   SNP解析に有効な飽和ゲノム編集(Saturation genome editing is effective for a study of single nucleotide polymorphism)  

    日本病理学会会誌  2024.2  (一社)日本病理学会

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  • 簗詰 伸太郎, 牛若 昂志, 水野 美香, 戸上 真一, 小林 裕介, 古家 淳行, 赤羽 俊章, 北薗 育美, 谷本 昭英, 小林 裕明   POLE遺伝子異常を伴う子宮体癌における細胞学的特徴の検討  

    日本臨床細胞学会雑誌  2022.5  (公社)日本臨床細胞学会

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  • 比嘉 那優大, 赤羽 俊章, 横山 勢也, 米澤 大, 内田 裕之, 霧島 茉莉, 山本 淳考, 吉本 幸司, 谷本 昭英, 花谷 亮典   IDH wildtype-TERTp wildtype glioblastomaにおけるPTENの予後への影響  

    Brain Tumor Pathology  2023.5  日本脳腫瘍病理学会

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  • 比嘉 那優大, 赤羽 俊章, 横山 勢也, 米澤 大, 内田 裕之, 浜田 大治, 霧島 茉莉, 谷本 昭英, 花谷 亮典, 吉本 幸司   IDH wild-type GBMにおけるPDGFRA amplificationおよびMGMTpの予後への影響  

    Brain Tumor Pathology  2022.5  日本脳腫瘍病理学会

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  • 大西 俊平, 山崎 文之, Jeet Amatya Vishwa, 米澤 潮, 比嘉 那優大, 赤羽 俊章, 谷本 昭英, 武島 幸男, 花谷 亮典, 堀江 信貴   Astrocytoma,IDH-mutant with primitive neuronal componentの一例  

    Brain Tumor Pathology  2024.5  日本脳腫瘍病理学会

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