記述言語：日本語   出版者・発行元：International Journal of Surgery Case Reports  

Introduction and importance: Intracranial germinomas are germ cell tumors that commonly develop in the pineal or neurohypophysis regions. As ectopic germinomas are rarely observed within the cerebrum and are associated with atypical image findings, diagnosis is challenging. Case presentation: A 14-year-old boy was admitted to our hospital with complaints of vomiting and headache. Gadolinium-enhanced magnetic resonance imaging revealed ring-enhancing lesions in his left frontal lobe and basal ganglia. Susceptibility-weighted imaging indicated that the subependymal veins passing through the lesion centers were engorged, while electrophoretic analysis of cerebrospinal fluid identified oligoclonal bands (OCBs); both were typical of multiple sclerosis (MS). Tumor biopsy revealed many cells with atypical mitotic figures and nuclear enlargements, suggesting malignant disease. As the tumor rapidly proliferated, we opted for surgical excision of the lesions. Histopathological analyses revealed “two-cell patterns” characteristic of germinoma. Immunohistochemistry was positive for placental alkaline phosphatase and c-KIT. The definitive diagnosis was germinoma. After chemoradiotherapy, the patient was discharged without neurological deficits. Clinical discussion: OCBs and several magnetic resonance imaging features (including open ring enhancement, T2 hypointense rims, mild mass effects, mild perilesional edema, peripheral restriction around the lesion, and vessel-like structures running through the lesion center) are useful diagnostic signs for the radiological discrimination of MS from germinoma. However, owing to these factors, some cases are difficult to diagnose. Conclusion: Our case report of an unusual ectopic cerebral germinoma illustrates the difficulty of distinguishing it from MS. Therefore, we recommend proper tissue sampling in such cases, especially in adolescent patients, to make definitive germinoma diagnoses.

DOI： 10.1016/j.ijscr.2023.107884

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PubMed

記述言語：日本語   出版者・発行元：一般社団法人 日本小児神経外科学会  

<p>症例は0生日女児．妊娠27週に前頭骨の変形と後頚部腫瘤を指摘された．32週の胎児Magnetic Resonance Imaging（MRI）で後頚部脳瘤を認め，38週に予定帝王切開で出生した．後頚部に長径4 cmの腫瘤を認め，MRIで腫瘤内に頭蓋内から逸脱した組織を認めたことから後頭部脳瘤と診断した．1生日に脳瘤修復術，9生日に髄液漏修復術を施行した．さらに術後3か月後に水頭症に対して脳室-腹腔シャント術を施行した．同胞の姉も脳瘤にて手術歴がある．同胞間脳瘤発症例は少なく，多彩な奇形を呈する本例はまれである．今回，同胞間発症と水頭症併発の2点に着目して考察を加える．</p>

DOI： 10.34544/jspn.48.3_290

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：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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PubMed

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuro-Oncology Advances  

Background: Glioblastoma (GBM) is a malignant brain tumor, with radiological and genetic heterogeneity. We examined the association between radiological characteristics and driver gene alterations. Methods: We analyzed the driver genes of 124 patients with IDH wild-type GBM with contrast enhancement using magnetic resonance imaging. We used a next-generation sequencing panel to identify mutations in driver genes and matched them with radiological information. Contrast-enhancing lesion localization of GBMs was classified into 4 groups based on their relationship with the subventricular zone (SVZ) and cortex (Ctx). Results: The cohort included 69 men (55.6%) and 55 women (44.4%) with a mean age of 66.4 ± 13.3 years. EGFR and PDGFRA alterations were detected in 28.2% and 22.6% of the patients, respectively. Contrast-enhancing lesion touching both the SVZ and Ctx was excluded because it was difficult to determine whether it originated from the SVZ or Ctx. Contrast-enhancing lesions touching the SVZ but not the Ctx had significantly worse overall survival than non-SVZ lesions (441 days vs. 897 days, P = .002). GBM touching only the Ctx had a better prognosis (901 days vs. 473 days, P < .001) than non-Ctx lesions and was associated with EGFR alteration (39.4% vs. 13.2%, P = .015). Multiple contrast lesions were predominant in PDGFRA alteration and RB1-wild type (P = .036 and P = .031, respectively). Conclusions: EGFR alteration was associated with cortical lesions. And PDGFRA alteration correlated with multiple lesions. Our results suggest that clarifying the association between driver genes and tumor localization may be useful in clinical practice, including prognosis prediction.

DOI： 10.1093/noajnl/vdad110

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PubMed

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Pituitary  

Purpose: Delayed postoperative hyponatremia (DPH) is a unique complication of transsphenoidal surgery (TSS) in pituitary tumors. Growth hormone (GH) enhances renal sodium reabsorption; however, the association between postoperative GH reduction and DPH in acromegaly is unclear. This study was performed to clarify the incidence of and the predictive factors for DPH in patients with acromegaly who underwent TSS. Methods: Ninety-four patients with active acromegaly were examined retrospectively. During the postoperative course, patients with serum sodium levels ≤ 134 mEq/L were classified into the DPH group. We compared basic clinical characteristics, tumor characteristics, and preoperative and postoperative examination findings between the DPH and non-DPH groups. Results: DPH occurred in 39 patients (41.5%), and the lowest serum sodium levels were generally observed during postoperative days (PODs) 7–9. They needed a 3-day longer hospital stay than those without DPH. The DPH group had lower preoperative body weight and body mass index. In addition, a transient increase in body weight during PODs 5–7 occurred with a transient decrease in urinary volume in the DPH group. Preoperative and postoperative GH and insulin-like growth factor-1 levels did not differ between the two groups. Conclusion: The findings suggested that lower preoperative weight and a postoperative transient gain in body weight are associated with an increased risk of DPH in acromegaly patients undergoing transsphenoidal surgery.

DOI： 10.1007/s11102-022-01288-y

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PubMed

記述言語：英語   出版者・発行元：Pathology Research and Practice  

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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PubMed

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：一般社団法人 日本脳神経外科学会  

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 IDH1/2, TERTp, EGFR, and CDKN2A/B on a single platform. Within glioblastomas (GBMs), the most commonly mutated genes were TERTp, TP53, PTEN, NF1, and PDGFRA, which was the most frequently mutated tyrosine kinase receptor in GBM, followed by EGFR. The genes that most commonly showed evidence of loss were PTEN, CDKN2A/B, and RB1, whereas the genes that most commonly showed evidence of gain/amplification were EGFR, PDGFRA, and CDK4. In 22 grade III oligodendroglial tumors, 3 (14%) patients had CDKN2A/B homozygous dele-tion, and 4 (18%) patients had ARID1A mutation. In grade III oligodendroglial tumors, an ARID1A mutation was associated with worse progression-free survival. Reclassification based on the WHO 2021 classification resulted in 62.5% of grade II/III isocitrate dehydrogenase (IDH)-wildtype astrocytomas be-ing classified as IDH-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 addi-tion, 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.

DOI： 10.2176/jns-nmc.2022-0103

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PubMed

記述言語：英語   出版者・発行元：(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。

記述言語：日本語   出版者・発行元：(一社)日本てんかん学会  

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：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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その他リンク： https://academic.oup.com/noa/article-pdf/4/1/vdac097/45178840/vdac097.pdf

記述言語：日本語   出版者・発行元：株式会社医学書院  

＜文献概要＞Point ●髄膜腫では遺伝子変異と臨床学的特徴との関連を認める.特にTERTプロモーター変異は臨床経過を予測する有用な分子マーカーであることが示唆されている.●髄膜腫では,遺伝子変異以外に,網羅的なメチル化に基づく新たな分類法の有用性も報告されている.●扁平上皮乳頭型頭蓋咽頭腫ではBRAF V600E変異を認め,MAPKシグナル伝達経路を阻害する標的薬の有効性が報告されている.●良性脳腫瘍でも遺伝子変異による新しい腫瘍分類や,遺伝子変異に合わせた標的治療を採用するprecision medicineが発展しつつある.

DOI： 10.11477/mf.1542203030

CiNii Books

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：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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記述言語：日本語   出版者・発行元：株式会社医学書院  

＜文献概要＞[目的]大脳基底核部のジャーミノーマによる麻痺は,早期診断が難しく腫瘍が画像上消失しても機能回復は困難とされる.今回,複合的な作業療法を継続し上肢機能が良好な結果を呈した症例を報告する.[症例]10歳代後半男性.左上下肢の脱力があり,頭部核磁気共鳴画像法にて右基底核などに病変を認めジャーミノーマと診断された.[経過]化学療法のため3ヵ月間入院した.7ヵ月後,右側脳室前角近傍に再発のため入院し,約6ヵ月間,放射線治療と化学療法を受けた.[作業療法]入院中の各期間,上肢麻痺に対して促通反復療法や課題指向型アプローチ,振動刺激痙縮抑制法,生活環境における麻痺側上肢の動作指導を実施した.[結果]16ヵ月の経過でBox and Block Testは32点から40点へ,簡易上肢機能検査は73点から87点へ変化し,生活動作で実用性が向上した.[結語]大脳基底核部ジャーミノーマは集学的治療により生命予後は良好であり,複合的な作業療法を加えることで麻痺肢の機能向上をめざせる可能性がある.

DOI： 10.11477/mf.1552202503

CiNii Books

記述言語：日本語   出版者・発行元：(株)医学書院  

＜文献概要＞[目的]大脳基底核部のジャーミノーマによる麻痺は,早期診断が難しく腫瘍が画像上消失しても機能回復は困難とされる.今回,複合的な作業療法を継続し上肢機能が良好な結果を呈した症例を報告する.[症例]10歳代後半男性.左上下肢の脱力があり,頭部核磁気共鳴画像法にて右基底核などに病変を認めジャーミノーマと診断された.[経過]化学療法のため3ヵ月間入院した.7ヵ月後,右側脳室前角近傍に再発のため入院し,約6ヵ月間,放射線治療と化学療法を受けた.[作業療法]入院中の各期間,上肢麻痺に対して促通反復療法や課題指向型アプローチ,振動刺激痙縮抑制法,生活環境における麻痺側上肢の動作指導を実施した.[結果]16ヵ月の経過でBox and Block Testは32点から40点へ,簡易上肢機能検査は73点から87点へ変化し,生活動作で実用性が向上した.[結語]大脳基底核部ジャーミノーマは集学的治療により生命予後は良好であり,複合的な作業療法を加えることで麻痺肢の機能向上をめざせる可能性がある.

記述言語：英語   出版者・発行元：Pathology International  

DOI： 10.1111/pin.13197

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Scientific Reports  

Understanding human genome alterations is necessary to optimize genome-based cancer therapeutics. However, some newly discovered mutations remain as variants of unknown significance (VUS). Here, the mutation c.1403A > G in exon 10 of the platelet-derived growth factor receptor-alpha (PDGFRA) gene, a VUS found in adult glioblastoma multiforme (GBM), was introduced in human embryonal kidney 293 T (HEK293T) cells using genome editing to investigate its potential oncogenic functions. Genome editing was performed using CRISPR/Cas9; the proliferation, drug sensitivity, and carcinogenic potential of genome-edited cells were investigated. We also investigated the mechanism underlying the observed phenotypes. Three GBM patients carrying the c.1403A > G mutation were studied to validate the in vitro results. The c.1403A > G mutation led to a splice variant (p.K455_N468delinsN) because of the generation of a 3’-acceptor splice site in exon 10. PDGFRA-mutated HEK293T cells exhibited a higher proliferative activity via PDGFRα and the cyclin-dependent kinase (CDK)4/CDK6-cyclin D1 signaling pathway in a ligand-independent manner. They showed higher sensitivity to multi-kinase, receptor tyrosine kinase, and CDK4/CDK6 inhibitors. Of the three GBM patients studied, two harbored the p.K455_N468delinsN splice variant. The splicing mutation c.1403A > G in PDGFRA is oncogenic in nature. Kinase inhibitors targeting PDGFRα and CDK4/CDK6 signaling should be evaluated for treating GBM patients harboring this mutation.

DOI： 10.1038/s41598-022-05391-9

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Surgical Neurology International  

Background: Cerebrospinal fluid (CSF) leakage is a common complication of ventriculoperitoneal shunt (VPS) and has the potential to induce shunt infection. Especially in infants and children, these are serious complications. DuraGen is a collagen matrix dural substitute used to reduce the risk of CSF leakage in various neurosurgeries. We report our VPS procedure with DuraGen for preventing postoperative CSF leakage in patients aged <1 year. Methods: We used DuraGen to prevent postoperative CSF leakage in six VPS surgeries. Antibiotic-impregnated shunt catheters and programmable valves with anti-siphon devices were also used in all cases. DuraGen was placed inside and atop the burr hole. All cases had an initial shunt pressure of 5 cmH2O. Fibrin glue was not used. Results: The patients underwent follow-up for a year after VPS surgery. There was no postoperative subcutaneous CSF collection or leakage after all six VPS surgeries. Furthermore, no postoperative shunt infections or DuraGen-induced adverse events were noted. Conclusion: We speculate that DuraGen has a preventive effect on postoperative CSF leakage in VPS cases aged <1 year.

DOI： 10.25259/SNI_629_2022

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Surgical Neurology International  

Background: We previously found the usefulness of dural sac shrinkage signs (DSSSs), which are the anterior shift of the spinal cord and dura mater behind the cord, detected by magnetic resonance imaging (MRI) at the thoracic level for the diagnosis of spontaneous intracranial hypotension (IH). This is a retrospective survey on the usefulness of DSSSs for the early detection of iatrogenic IH caused by overdrainage through a lumboperitoneal shunt (LPS) for patients with idiopathic normal pressure hydrocephalus (INPH). Methods: Forty-five INPH patients had an LPS using a pressure programmable valve equipped with an anti-siphon device. Results: Nine patients complained of orthostatic headache after the LPS, indicating IH due to overdrainage, which persisted for more than a week in three patients and 2-7days in six patients. The headache was transient/ nonorthostatic in ten patients and absent in 26 patients. The DSSSs and accompanying enlargement of the venous plexus were observed in all three patients with prolonged orthostatic headaches. Only the anterior shift of the dura mater was observed in 1 (4%) among 25 patients who had short-term orthostatic headache, transient/ nonorthostatic headache, or absent headache, and underwent spinal MRI. A patient with prolonged severe orthostatic headache with both DSSSs eventually developed intracranial subdural effusion and underwent tandem valve surgery, which provided a quick improvement of symptoms. The DSSSs on thoracic MRI also disappeared promptly. Conclusion: DSSSs may serve as objective signs for the diagnosis of IH due to overdrainage through an LPS for INPH.

DOI： 10.25259/SNI_291_2022

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Interdisciplinary Neurosurgery: Advanced Techniques and Case Management  

Background: Spinal sagittal malalignment affects a patient's quality of life, and the condition has gained increasing importance. The cranial center of the gravity-sagittal vertical axis (CCG-SVA) helps in assessing sagittal alignment. Two major landmarks of the CCG are used for measuring the CCG-SVA: the midpoint of the nasion-inion line (MNI) and the external auditory canal (EAC). However, the correspondence between these two points has not been proved. In this study, we radiologically examined the positional relationship between them. Methods: We obtained lateral skull radiographs from 87 patients aged between 21 and 91 years. We evaluated the following: the vertical distance between the MNI and the upper margin of the EAC (Distance A), the horizontal distance between the plumb line from the MNI and the anterior margin of the EAC (Distance B), and the horizontal distance between the plumb line from the MNI and the center of the EAC (Distance C). Results: The average values of Distances A, B, and C were 19.6 ± 5.0, 1.65 ± 5.7, and 5.45 ± 5.5 mm, respectively, indicating that the plumb lines dropped from the MNI and the EAC did not match exactly. The measured values showed no sex-specific differences (P > 0.05, Mann–Whitney U test). Conclusions: The present study demonstrated that the MNI and EAC locations had minimal horizontal differences. The CCG-SVA should be measured by considering the differences between the MNI and the EAC.

DOI： 10.1016/j.inat.2021.101299

Web of Science

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1186/s40792-021-01298-1

PubMed

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：World Neurosurgery  

Objective: Pin-type head frame systems have become a worldwide standard procedure, but they can cause some complications on rare occasions. This study aimed to examine the incidence and associated risk factors of depressed skull fracture and related intracranial hematoma (DSFH) due to the use of head frames in our institute over the past 10 years. Methods: This study included 1749 patients who underwent neurosurgical surgeries using pin-type head frames, including the Mayfield (Integra NeuroSciences, Plainsboro, NJ) skull clamp (721 cases) and the Sugita (Mizuho Ikakogyo Co., Ltd., Tokyo, Japan) head frame (1028 cases). We retrospectively reviewed hospital records of our institute to identify cases of DSFH, and documented the type of head frame used, as well as patient characteristics. Results: The incidence of DSFH was 0.29% (5 of 1749 cases). All 5 cases had an associated epidural hematoma, with a single case having an additional dural laceration (without subdural damage). All perforation sites, located at the parietal bone near the pterion, occurred by the unilateral horizontal screw of the Sugita head frame. None of the patients experienced postoperative neurological decline. Conclusions: Even in the adult population, the DSFH by the pin-type head frame can occur infrequently. Based on our results, we recommend that the following factors should be considered when the pin-type head frame is used for neurosurgical procedures: location of pin application, thickness and fragility of the skull, and adequate control of compressive forces exerted by the head frame.

DOI： 10.1016/j.wneu.2021.08.070

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PubMed

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Neuro-oncology  

Background: High-grade meningiomas are aggressive tumors with high morbidity and mortality rates that frequently recur even after surgery and adjuvant radiotherapy. However, limited information is currently available on the biology of these tumors, and no alternative adjuvant treatment options exist. Although we previously demonstrated that high-grade meningioma cells were highly sensitive to gemcitabine in vitro and in vivo, the underlying molecular mechanisms remain unknown. Methods: We examined the roles of hENT1 (human equilibrative nucleoside transporter 1) and dCK (deoxycytidine kinase) in the gemcitabine sensitivity and growth of meningioma cells in vitro. Tissue samples from meningiomas (26 WHO grade I and 21 WHO grade II/III meningiomas) were immunohistochemically analyzed for hENT1 and dCK as well as for Ki-67 as a marker of proliferative activity. Results: hENT1 and dCK, which play critical roles in the intracellular transport and activation of gemcitabine, respectively, were responsible for the high gemcitabine sensitivity of high-grade meningioma cells and were strongly expressed in high-grade meningiomas. hENT1 expression was required for the proliferation and survival of high-grade meningioma cells and dCK expression. Furthermore, high hENT1 and dCK expression levels correlated with stronger tumor cell proliferative activity and shorter survival in meningioma patients. Conclusions: The present results suggest that hENT1 is a key molecular factor influencing the growth capacity and gemcitabine sensitivity of meningioma cells and also that hENT1, together with dCK, may be a viable prognostic marker for meningioma patients as well as a predictive marker of their responses to gemcitabine.

DOI： 10.1093/neuonc/noab015

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その他リンク： http://academic.oup.com/neuro-oncology/article-pdf/23/6/945/38436591/noab015.pdf

記述言語：日本語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Scientific Reports  

Amide proton transfer (APT) imaging is a magnetic resonance (MR) molecular imaging technique that is sensitive to mobile proteins and peptides in living tissue. Studies have shown that APT-related signal intensity (APTSI) parallels with the malignancy grade of gliomas, allowing the preoperative assessment of tumor grades. An increased APTSI in malignant gliomas has been attributed to cytosolic proteins and peptides in proliferating tumor cells; however, the exact underlying mechanism is poorly understood. To get an insight into the mechanism of high APTSI in malignant gliomas, we investigated the correlations between APTSI and several MR imaging parameters including apparent diffusion coefficient (ADC), relative cerebral blood volume and pharmacokinetic parameters obtained in the same regions-of-interest in 22 high-grade gliomas. We found a significant positive correlation between APTSI and ADC (ρ = 0.625 and 0.490 for observers 1 and 2, respectively; p < 0.001 for both), which is known to be inversely correlated with cell density. Multiple regression analysis revealed that ADC was significantly associated with APTSI (p < 0.001 for both observers). Our results suggest possible roles of extracellular proteins and peptides in high APTSI in malignant gliomas.

DOI： 10.1038/s41598-021-90841-z

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その他リンク： http://www.nature.com/articles/s41598-021-90841-z

記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

記述言語：日本語   出版者・発行元：(一社)日本病理学会  

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：The Journal of craniofacial surgery  

AbstractThis study aimed to evaluate the treatment outcomes and the efficiency of techniques of fronto-orbital advancement (FOA) and posterior cranial vault expansion (PCVE) using distraction osteogenesis in patients with multiple craniosynostosis. We assessed the treatment results and outcomes of 8 patients with multiple craniosynostosis at the Kagoshima University Hospital between 2005 and 2019. Each 4 patients underwent FOA and PCVE, respectively, using distraction osteogenesis. The cranial volume and developmental quotient (DQ) were measured at the preoperative period and 1 year after surgery. The mean patient age at surgery was 22 months. The mean preoperative cranial volume was 1027 and 1071 cm3in the FOA and PCVE groups, respectively. The mean preoperative DQ scores were 74 and 67, respectively. After 1-year of follow-up, the corresponding mean cranial volume became 1108 and 1243 cm3, respectively. The corresponding mean DQ scores also improved to 74 and 81, respectively. The postoperative follow-ups in all cases were uneventful, except for persistent epilepsy in 1 patient. Fronto-orbital advancement and PCVE using distraction osteogenesis might contribute to good outcomes in expanding cranial volume, cosmetic osteogenesis, and infantile development in patients with multiple craniosynostosis. Regarding the cranial volume expansion, especially, PCVE using distraction osteogenesis is more effective than FOA.

DOI： 10.1097/scs.0000000000007442

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出版者・発行元：World Neurosurgery  

DOI： 10.1016/j.wneu.2020.07.213

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記述言語：英語   出版者・発行元：John Wiley & Sons Australia, Ltd  

今回、神経膠腫の分子病理学的統合診断を目的として、新たに48遺伝子で構成された次世代シークエンサー(NGS)用カスタム遺伝子パネルを構築し、その実行可能性について検討した。なお、本パネルは、1p/2q共欠失とIDH1/2遺伝子、TP53遺伝子、PTEN遺伝子、PDGFRA遺伝子、NF1遺伝子、RB1遺伝子、CDKN2A/B遺伝子およびCDK4遺伝子とTERT遺伝子のプロモーター領域(TERTp)変異を検出するために、神経膠腫診断に特化した遺伝子パネルである。当院で開発した中枢神経系腫瘍組織バンクから、神経膠腫患者106例(グレードII:19例、グレードIII:23例、グレードIV:64例)を選択し、本パネルを用いて解析した結果、乏突起膠腫で1p/19q共欠失が正確に検出され、グレードIV患者64例中56例にはIDH遺伝子が野生型の膠芽腫が同定され、うち33例にTERTp変異が認められた。また、PDGFRA遺伝子の変異と増幅は、TERTp遺伝子が野生型の膠芽腫では43%に、TERTp変異を有する膠芽腫では6%に認められ、分子遺伝情報に基づいた階層分類により、IDH遺伝子が野生型の膠芽腫では、明確に3グループに分類された。さらに、PDGFRA遺伝子変異、CDK4遺伝子およびPFGFRA遺伝子の増幅、CDKN2A/B遺伝子でのホモ接合性欠失やTERTp変異の欠如により特徴付けられた主要なクラスタが、高年齢、Ki-67高スコア、予後不良および脳室周囲腫瘍と有意に関連することが明らかにされた。以上の解析結果から、本パネルにより、PDGFRA遺伝子異常が高頻度に認められ、IDH遺伝子およびTERTp遺伝子変異が野生型を示す膠芽腫患者の各サブタイプが同定された。

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Cancer Science  

DOI： 10.1111/cas.14597

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その他リンク： https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cas.14597

出版者・発行元：Child's Nervous System  

DOI： 10.1007/s00381-019-04489-2

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出版者・発行元：Surgical Neurology International  

DOI： 10.25259/SNI_97_2020

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Academic Radiology  

DOI： 10.1016/j.acra.2019.04.012

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出版者・発行元：Oncogenesis  

DOI： 10.1038/s41389-020-0190-7

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その他リンク： http://www.nature.com/articles/s41389-020-0190-7

DOI： 10.25259/SNI_531_2020

PubMed

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：International Journal of Molecular Sciences  

DOI： 10.3390/ijms20246355

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出版者・発行元：British Journal of Cancer  

DOI： 10.1038/s41416-019-0413-x

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出版者・発行元：(一社)日本小児神経外科学会  

頭蓋骨膜洞は頭蓋外静脈と頭蓋内静脈のtranscalvarial emissary veinを介した吻合が、頭皮下腫瘤となった疾患である。多くは先天性だが、我々は外傷後に遅発性に発症した頭蓋骨膜洞を経験したので報告する。症例は2歳女児。頭部外傷にて左前頭部陥没骨折と頭皮下血腫の診断で穿刺排液を施行。受傷2年後も腫瘤は仰臥位で増大、座位で速やかに消退する経過をたどった。画像評価後、止血困難な出血リスクや美容上の観点から摘出術を施行し、術後経過は良好であった。自然経過で改善のない外傷性頭蓋骨膜洞においては周囲骨膜を含めた摘出術が推奨される。(著者抄録)

出版者・発行元：Oncology Letters  

DOI： 10.3892/ol.2017.7249

Web of Science

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出版者・発行元：John Wiley & Sons Australia, Ltd  

症例は62歳男性で、慢性頭痛を主訴とし、CTで左帯状回に石灰化腫瘤が認められたが、脳神経学的障害、mass effect、病変周囲の浮腫が認められなかったため保存的管理となった。6年後のCTで、病変周囲の浮腫によるmass effectを伴う石灰化腫瘤が示された。MRIのT1・T2強調画像から局所的浮腫または腫瘍性浸潤が示唆された。病変サイズの著明な増加、病変周囲浮腫の発症、メチオニン摂取量の増加から、腫瘤除去のため部分的開頭術を実施した。腫瘤はクモ膜下に位置していた。腫瘍の亜全摘を行ったが、深部の小さな領域が残存した。術後に頭痛はみられず、新規の神経障害もなかった。ガドリニウム増強MRIで小さな残存病変の増殖が明らかになり、病理学的検査では、石灰化小結節がグリア組織に囲まれ、骨形成を伴った好塩基球性、軟骨粘液基質の小葉を伴った低細胞性線維性血管性組織からなっていた。グリア組織の一部はクモ膜下腔へ隆起し、軟膜動脈および静脈を包含していた。グリア組織はグリア線維酸性蛋白質、S-100蛋白質、ネスチンに陽性であった。石灰化腫瘤に隣接した柵状紡錘細胞、石灰化小結節周囲の組織球およびリンパ球の所見から、低悪性度神経膠腫に生じた石灰化腫瘤はcalcifying pseudoneoplasm of the neuraxisと一致することが示唆された。

出版者・発行元：Neuropathology  

DOI： 10.1111/neup.12384

Web of Science

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記述言語：日本語  

記述言語：日本語   出版者・発行元：(株)医学書院  

＜文献概要＞Point　●髄膜腫では遺伝子変異と臨床学的特徴との関連を認める.特にTERTプロモーター変異は臨床経過を予測する有用な分子マーカーであることが示唆されている.●髄膜腫では,遺伝子変異以外に,網羅的なメチル化に基づく新たな分類法の有用性も報告されている.●扁平上皮乳頭型頭蓋咽頭腫ではBRAF V600E変異を認め,MAPKシグナル伝達経路を阻害する標的薬の有効性が報告されている.●良性脳腫瘍でも遺伝子変異による新しい腫瘍分類や,遺伝子変異に合わせた標的治療を採用するprecision medicineが発展しつつある.

記述言語：日本語   出版者・発行元：(株)医学書院  

＜文献概要＞Point ●髄膜腫では遺伝子変異と臨床学的特徴との関連を認める.特にTERTプロモーター変異は臨床経過を予測する有用な分子マーカーであることが示唆されている.●髄膜腫では,遺伝子変異以外に,網羅的なメチル化に基づく新たな分類法の有用性も報告されている.●扁平上皮乳頭型頭蓋咽頭腫ではBRAF V600E変異を認め,MAPKシグナル伝達経路を阻害する標的薬の有効性が報告されている.●良性脳腫瘍でも遺伝子変異による新しい腫瘍分類や,遺伝子変異に合わせた標的治療を採用するprecision medicineが発展しつつある.

記述言語：日本語  

記述言語：日本語  

記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

記述言語：英語   出版者・発行元：John Wiley & Sons Australia, Ltd  

記述言語：日本語  

記述言語：日本語   出版者・発行元：(株)中外医学社  

記述言語：日本語  

記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

J-GLOBAL

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記述言語：日本語   出版者・発行元：(公社)日本薬学会  

J-GLOBAL

出版者・発行元：(一社)日本小児神経外科学会  

記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

J-GLOBAL

記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：(一社)日本病理学会  

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記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

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記述言語：日本語   出版者・発行元：(一社)日本病理学会  

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記述言語：日本語   出版者・発行元：(一社)日本病理学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

頭蓋骨膜洞は頭蓋外静脈と頭蓋内静脈のtranscalvarial emissary veinを介した吻合が、頭皮下腫瘤となった疾患である。多くは先天性だが、我々は外傷後に遅発性に発症した頭蓋骨膜洞を経験したので報告する。症例は2歳女児。頭部外傷にて左前頭部陥没骨折と頭皮下血腫の診断で穿刺排液を施行。受傷2年後も腫瘤は仰臥位で増大、座位で速やかに消退する経過をたどった。画像評価後、止血困難な出血リスクや美容上の観点から摘出術を施行し、術後経過は良好であった。自然経過で改善のない外傷性頭蓋骨膜洞においては周囲骨膜を含めた摘出術が推奨される。(著者抄録)

J-GLOBAL

記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

J-GLOBAL

記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

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記述言語：日本語   出版者・発行元：日本脳神経CI学会  

磁場式ナビゲーションを経蝶形骨洞手術に使用した71例の成績をもとにその有用性を検討し、以下の結果を得た。1)CTの情報のみでも蝶形骨洞内の隔壁やトルコ鞍底の位置確認が十分可能であった。2)time of flight MRAとCTをfusionさせた画像は内頸動脈の位置確認に極めて有効であった。3)腫瘍の位置を確認する場合には、CTとMRAの濃度を落として造影T1強調画像のみにすることで、腫瘍の局在をはっきり示すことができた。4)CT・MRI・MRAそれぞれの濃度を中間的にすることで、骨・血管・腫瘍の全てを表現することが可能であった。5)fusionさせた画像の濃度調整を行うことで、手術の状況に即した位置情報を把握することができた。6)経蝶形骨洞手術における最も重篤な合併症である内頸動脈損傷は1例も発生しなかった。

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記述言語：日本語   出版者・発行元：日本脳腫瘍病理学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児神経外科学会  

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記述言語：日本語  

記述言語：日本語  

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