Faculty Profiles - akihide Tanimoto

Papers - akihide Tanimoto

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米盛圭一, 日高敬文, 吉留伸郎, 原口優清, 谷本昭英, 夏越祥次 . 子宮内膜症を伴った成人Nuck管水腫の1例 . 診断と治療107 ( 12 ) 1547 - 1549 2019.12

Language：Japanese Publisher：(株)診断と治療社

26歳女。右下腹部腫瘤を主訴とした。右鼠径部に4cm大の弾性軟の腫瘤を認め、腫瘤は立位で膨隆し、仰臥位または圧迫で縮小した。自発痛や圧痛は認められなかった。腹部CTおよび腹部超音波検査にて、右鼠径部に35mm×37.4mm大の多房性嚢胞性腫瘤を認め、血液検査では異常を認めなかった。以上より、Nuck管水腫と診断し、鼠径ヘルニア根治術の前方アプローチに準じて手術を施行した。病理組織学的検査では、悪性所見を認めず、Nuck管水腫と診断した。嚢胞壁内には子宮内膜症の所見を認めた。術後は経過良好で、術後6日目には退院し、術後1年の時点で、再発は認めなかった。

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Atsuko Ibusuki, Takuro Nishikawa, Tsubasa Hiraki, Tsubasa Okano, Kohsuke Imai, Hirokazu Kanegane, Hidenori Ohnishi, Zenichiro Kato, Kazuyasu Fujii, Akihide Tanimoto, Yoshifumi Kawano, Takuro Kanekura . Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL2RG gene. . The Journal of dermatology46 ( 11 ) 1019 - 1023 2019.11

Prominent dermal infiltration by Langerhans cells (LC) is a rare finding in patients with Omenn syndrome (OS). Here, we report the case study of a 7-month-old boy with OS and with prominent dermal infiltration by LC, which is a rare histological manifestation of the skin. Striking erythroderma appeared in the patient 2 weeks after birth. We also noted alopecia, lymphadenopathy, hepatosplenomegaly, eosinophilia and an elevated serum immunoglobulin E level with hypogammaglobulinemia. Peripheral blood flow cytometry showed the Tlow NK+ B+ immunophenotype and genetic analysis, a novel mutation in the IL2RG gene (c.337_339delTCT, p.Ser113del). The final diagnosis was that of OS. He responded well to an allograft umbilical cord blood transplantation that was performed when the patient was 8 months of age. We speculate that the LC accumulated in the dermis will eventually migrate to the regional lymph node, then stimulate autoreactive T cells by overpresenting antigens, thus causing OS-specific skin symptoms.

DOI： 10.1111/1346-8138.15054

PubMed

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Akira I Hida, Takahiro Watanabe, Yasuaki Sagara, Masahiro Kashiwaba, Yoshiaki Sagara, Kenjiro Aogi, Yasuyo Ohi, Akihide Tanimoto . Diffuse distribution of tumor-infiltrating lymphocytes is a marker for better prognosis and chemotherapeutic effect in triple-negative breast cancer. . Breast cancer research and treatment178 ( 2 ) 283 - 294 2019.11

PURPOSE: High-density tumor-infiltrating lymphocytes (TILs) are a prognostic marker for triple-negative breast cancer (TNBC). However, lymphocytic infiltration is heterogeneous in its pattern. We aimed to explore the utility of TIL distribution patterns against TIL density for predicting TNBC prognosis and chemotherapeutic effects. METHODS: Primary invasive TNBC cases were retrieved from a single institutional cohort, and archived samples were reviewed by two board-certificated pathologists. We used 154 consecutive surgical specimens from patients with standard adjuvant therapy, and 80 biopsies taken before primary systemic chemotherapy. The average density of stromal TILs was scored at 10% intervals, while the distribution pattern of TILs was evaluated as diffuse or non-diffuse. The association between TILs and prognosis or pathological complete response (pCR) was statistically analyzed. RESULTS: A diffuse pattern of TILs at primary surgery correlated with better prognosis (relapse-free survival [RFS], hazard ratio [HR] 3.71, 95% confidence interval [CI] 1.60-8.57; overall survival [OS], HR 3.87, 95% CI 1.46-10.27), as well as high TIL density (≥ 50%; RFS, HR 4.51, 95% CI 2.06-9.90; OS, HR 3.28, 95% CI 1.32-8.14). Diffuse TIL pattern and nodal status were independent prognostic factors in multivariate analysis. Diffuse TIL pattern upon biopsy was associated with higher pCR rate (diffuse, 46%; non-diffuse, 21%; P = 0.032). All high TIL cases had diffuse patterns and the best outcome. Interobserver concordance was moderate (k = 0.53-0.55; distribution pattern) to good (weighted k = 0.67-0.69; density), and it was faster to assess the distribution pattern than to assess the density of TIL. CONCLUSIONS: Showing similar clinical impacts to the TIL density, diffuse TILs could be a predictive marker for better prognosis and higher pCR. The assessment of TIL distribution pattern is simple, faster, and practical. Heterogeneous tumor immunity may contribute to further stratification of TNBC treatment.

DOI： 10.1007/s10549-019-05390-x

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Ibusuki Atsuko, Nishikawa Takuro, Hiraki Tsubasa, Okano Tsubasa, Imai Kohsuke, Kanegane Hirokazu, Ohnishi Hidenori, Kato Zenichiro, Fujii Kazuyasu, Tanimoto Akihide, Kawano Yoshifumi, Kanekura Takuro . IL2RG遺伝子に新規変異を有するOmenn症候群患者における、顕著な真皮Langerhans細胞(Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL2RG gene) . The Journal of Dermatology46 ( 11 ) 1019 - 1023 2019.11Reviewed

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

症例は生後7ヵ月の男児で、複合免疫不全を伴い、出生2週間後に出現した皮膚病変評価のため紹介された。他院にてアトピー性皮膚炎と診断され治療が行われていたが、3ヵ月時に敗血症のため入院し重症複合免疫(SCID)が疑われた。紹介後の検査では紅皮症、脱毛症、両側腋窩リンパ節腫脹、軽度肝脾腫、好酸球増加症が見られ、また血清免疫グロブリンG、A、M値は極端に低く、血清免疫グロブリンE値は非常に高かった。末梢血フローサイトメトリーではCD3陽性T細胞が全リンパ球の35%まで減少し、CD19陽性B細胞およびCD56陽性ナチュラルキラー細胞が各々37%と26%に増加していた。さらにCD4陰性/CD8陽性T細胞品は顕著に増加していた。IL2RG遺伝子の配列解析では、当該遺伝子にc.337_339delTCT、p.Ser113delのインフレーム変異が明らかとなり、最終診断はOmenn症候群となった。8ヵ月時に施行した同種移植臍帯血移植によく反応し、症状は顕著に改善し、その後3年間の臨床検査所見は正常であった。

島尾義也, 堀之内道子, 東美智代, 地村友宏, 永野広海, 谷本昭英 . 顎下腺に発生した扁平上皮癌の1例 . 診断病理36 ( 4 ) 320 - 323 2019.10

Publisher：(一社)日本病理学会

唾液腺、とくに顎下腺に発生する扁平上皮癌は非常に稀である。今回、左顎下腺に発生した扁平上皮癌の1例を経験したので報告する。症例は60代女性、左顎下腺腫瘍の診断で腫瘍摘出術が施行された。腫瘍は浸潤傾向を認め内部に嚢胞様構造を認めた。組織学的には好酸性で厚い細胞質と大型核を有する癌細胞が大小の胞巣を形成し明らかな角化が認められた。CRTC1/CRTC3-MAML2癒合遺伝子は陰性で扁平上皮癌と診断した。唾液腺腫瘍では扁平上皮癌様の形態を示す腫瘍として粘表皮癌や唾液腺導管癌が挙げられ鑑別が必要である。(著者抄録)

島尾義也, 堀之内道子, 東美智代, 地村友宏, 永野広海, 谷本昭英 . 顎下腺に発生した扁平上皮癌の1例 . 診断病理36 ( 4 ) 320 - 323 2019.10

Language：Japanese Publisher：(一社)日本病理学会

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Hiroaki Kawaguchi, Masayuki Horie, Koki Onoue, Michiko Noguchi, Kohei Akioka, Tatsunori Masatani, Naoki Miura, Makoto Ozawa, Akihide Tanimoto . Development of a Model of Porcine Epidemic Diarrhea in Microminipigs. . Veterinary pathology56 ( 5 ) 711 - 714 2019.9Reviewed International journal

Language：English Publishing type：Research paper (scientific journal)

Porcine epidemic diarrhea virus (PEDV) induces an often fatal gastrointestinal disease in piglets. In this study, we performed a PEDV infection experiment with the Microminipig, the smallest of experimental minipigs, as a novel small animal model. We orally inoculated a neonatal Microminipig with an intestinal homogenate of a PEDV-infected pig and housed it in a small cage originally designed for rats in an animal biosafety level 2 facility. The infected Microminipig showed the typical signs of porcine epidemic diarrhea (PED), such as watery diarrhea, loss of appetite and weight loss. We also recognized a high amount of excreted PEDV in its rectal swabs and villus atrophy of the small intestine. These results suggest that the Microminipig is a good small animal model for PED, which may contribute to a better understanding of the pathogenesis of PEDV.

DOI： 10.1177/0300985819839236

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井上一利, 西川拓朗, 平木翼, 佐々木裕美, 義岡孝子, 中川俊輔, 児玉祐一, 岡本康裕, 谷本昭英, 河野嘉文 . 診断に難渋した前腕原発spindle cell sarcomaの1例 . 日本小児血液・がん学会雑誌56 ( 2 ) 212 - 215 2019.9

Publisher：(一社)日本小児血液・がん学会

1歳9ヵ月の男児。左前腕部の腫脹に気付き紹介医を受診、MRI検査で6cm弱の充実性腫瘤を認め当科紹介となった。転移巣なく、生検術を行った。当初、生検材料の病理検索ではinfantile fibrosarcomaを考えたが、中央病理診断ではmyofibromaが疑われた。臨床的な判断に基づいて、vincristine、actinomycine、ifosfamideによる化学療法を開始したが、腫瘍径は変化なかった。中央病理診断の結果と治療反応から、化学療法は開始2ヵ月で中止した。中止3ヵ月後より腫瘤が増大し、中止4ヵ月後に腫瘍辺縁切除術を行った。この際の病理診断はspindle cell sarcoma、unclassifiedであった。局所照射、vincristine、ifosfamide、doxorubicinによる化学療法を3クール行い治療終了した。病理診断が臨床経過に合わない場合は、再度検体を採取し、病理検査を行うことを考慮する。(著者抄録)

Language：Japanese Publisher：(一社)日本小児血液・がん学会

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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 . 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? . 検査と技術47 ( 5 ) 627 - 630 2019.5

Language：Japanese Publisher：(株)医学書院

＜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.

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Xin Guo, Hirotsugu Noguchi, Naoki Ishii, Takujiro Homma, Taiji Hamada, Tsubasa Hiraki, Jing Zhang, Kei Matsuo, Seiya Yokoyama, Hiroaki Ishibashi, Tomoko Fukushige, Takuro Kanekura, Junichi Fujii, Hidetaka Uramoto, Akihide Tanimoto, Sohsuke Yamada . The Association of Peroxiredoxin 4 with the Initiation and Progression of Hepatocellular Carcinoma. . Antioxidants & redox signaling30 ( 10 ) 1271 - 1284 2019.4Reviewed International journal

Language：English Publishing type：Research paper (scientific journal)

AIMS: Peroxiredoxin 4 (PRDX4) is a member of the peroxiredoxin family of antioxidant enzymes. Previously, we reported that PRDX4 can restrain the initiation and progression of nonalcoholic steatohepatitis by reducing local and systemic reactive oxygen species (ROS) levels. Oxidative stress is recognized as a key factor in hepatocarcinogenesis, and a high ROS level has also been found in hepatocellular carcinoma (HCC). Here, our aim is to investigate roles of PRDX4 in the initiation and progression of HCC. RESULTS: In this study, for hepatocarcinogenesis, wild-type (WT), PRDX4 knockout (PRDX4-/y), and human PRDX4 transgenic (hPRDX4+/+) mice were given a weekly intraperitoneal injection of diethylnitrosamine for 25 weeks. The HCC incidence was higher in PRDX4-/y mice than in WT or hPRDX4+/+ mice. Intrahepatic and circulating oxidative stress and inflammatory cell infiltration in the liver were obviously decreased in hPRDX4+/+ mice, compared with WT mice. Furthermore, in our cohort study, human HCC specimens with low expression of PRDX4 had higher ROS levels and a highly malignant phenotype, which was associated with a reduced overall survival, compared with those with high PRDX4 expression. However, in human HCC cell lines, PRDX4 knockdown led to a rapidly increased intracellular ROS level and suppressed cell proliferation, inducing cell death. Innovation and Conclusion: Our results clearly indicate that PRDX4 has an inhibitory effect in the initiation of HCC, but a dual (inhibitory or promoting) role in the progression of HCC, suggesting the potential utility of PRDX4 activators or inhibitors as therapy for different stages and phenotypes of HCC.

DOI： 10.1089/ars.2017.7426

PubMed

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赤羽俊章, 谷本昭英 . 【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 . 医学のあゆみ269 ( 3 ) 207 - 213 2019.4

Language：Japanese Publisher：医歯薬出版(株)

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)

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Atsunori Baba, Shigeto Matsushita, Kasumi Kitayama, Tetsuo Asakura, Hideki Sezutsu, Akihide Tanimoto, Takuro Kanekura . Silk fibroin produced by transgenic silkworms overexpressing the Arg-Gly-Asp motif accelerates cutaneous wound healing in mice. . Journal of biomedical materials research. Part B, Applied biomaterials107 ( 1 ) 97 - 103 2019.1Reviewed International journal

Language：English Publishing type：Research paper (scientific journal)

We investigated the effect of silk fibroin (SF) on wound healing in mice. SF or an amorphous SF film (ASFF) prepared from silk produced by the wild-type silkworm Bombyx mori (WT-SF, WT-ASFF) or by transgenic worms that overexpress the Arg-Gly-Asp (RGD) sequence (TG-SF, TG-ASFF) was placed on 5-mm diameter full-thickness skin wounds made by biopsy punch on the back of 8-12 week-old BALB/c mice. Each wound was covered with WT-ASFF and urethane film (UF), TG-ASFF plus UF, or UF alone (control). Wound closure, histological thickness, the area of granulation tissue, and neovascularization were analyzed 4, 8, and 12 days later. The effect of SF on cell migration and proliferation was examined in vitro by scratch- and MTT-assay using human dermal fibroblasts. Wound closure was prompted by TG-ASFF, granulation tissue was thicker and larger in ASFF-treated wounds than the control, and neovascularization was promoted significantly by WT-ASFF. Both assays showed that SF induced the migration and proliferation of human dermal fibroblasts. The effects of TG-ASFF and TG-SF on wound closure, granulation formation, and cell proliferation were more profound than that of WT-ASFF and WT-SF. We document that SF accelerates cutaneous wound healing, and this effect is enhanced with TG-SF. © 2018 Wiley Periodicals, Inc. J Biomed Mater Res Part B: Appl Biomater, 107B: 97-103, 2019.

DOI： 10.1002/jbm.b.34098

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霧島茉莉, 東美智代, 後藤優子, 北薗育美, 平木翼, 飛田陽, 谷本昭英 . 消化管出血で発見された膵十二指腸動静脈奇形の1例 . 診断病理36 ( 1 ) 39 - 45 2019.1

Publisher：(一社)日本病理学会

45歳男性。消化管出血の精査で十二指腸動静脈奇形を疑われ、経カテーテル動脈塞栓術後に膵頭十二指腸切除術を施行された。切除標本では十二指腸に出血や潰瘍は認めず、割面では十二指腸と膵に拡張した血管を認めた。組織学的には十二指腸から膵実質にかけて静脈様の拡張血管、動脈様血管や不整な小血管の集簇と部分的な吻合がみられ、動静脈奇形(AVM)と診断した。消化管出血を契機に発見された稀な膵十二指腸AVMの1例を報告し、消化管出血との関連について、文献を交えて考察する。(著者抄録)

上笹貫太郎, 花田朋子, 花谷亮典, 霧島茉莉, 谷本昭英, 坂本泰二 . 角膜混濁と眼痛で発見に至ったcolobomatous cystの1例 . 日本眼科学会雑誌123 ( 1 ) 39 - 44 2019.1

Publisher：(公財)日本眼科学会

背景:Colobomatous cystは眼球発生時の視神経裂の閉鎖不全に起因して生じる神経外胚葉系の嚢腫である。典型例では小眼球を伴い、時に嚢腫による下眼瞼の膨隆を来すため、比較的幼少期に発見される。症例:59歳、女性。幼少期に左視力不良を指摘されていたが、精査は受けなかった。約1年前から左眼角膜混濁と眼痛が出現し、近医で受けた画像検査で左眼窩腫瘍を指摘され当科紹介となった。初診時の視力は右(1.2)、左光覚なしであった。右眼は軽度白内障のほかに特記すべき所見は認めなかった。左眼は角膜混濁のため前房、眼底の透見は不良であった。造影magnetic resonance imaging(MRI)で左眼球後方に硝子体腔内と連続する憩室状構造を認め、視神経は嚢腫に連続していた。画像所見からcolobomatous cystを疑った。眼痛が増悪したため、左眼球摘出術を施行した。術後に眼痛は消失した。病理組織学的検査では嚢腫は網膜様組織の内層と、強膜と連続する膠原線維の外層で構成されており、colobomatous cystと診断した。眼球には虹彩ルベオーシスや第一次硝子体過形成遺残を疑う所見を認め、角膜混濁や硝子体出血の起因となったと考えられた。眼痛の原因として続発緑内障による眼圧上昇が考えられた。結論:長期にわたって診断されず、片眼の角膜混濁と眼痛を契機に発見に至ったcolobomatous cystの症例を経験した。Colobomatous cyst例では長期経過後に角膜混濁や眼痛が出現する可能性があることが示唆された。(著者抄録)

Language：Japanese Publisher：(公財)日本眼科学会

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Other Link： https://search.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2019&ichushi_jid=J01049&link_issn=&doc_id=20190117470005&doc_link_id=%2Fdz1nigan%2F2019%2F012301%2F004%2F0039-0044%26dl%3D0&url=http%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fdz1nigan%2F2019%2F012301%2F004%2F0039-0044%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

Language：Japanese Publisher：(一社)日本病理学会

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Toshiaki Akahane, Tomomi Yamaguchi, Yasutaka Kato, Seiya Yokoyama, Taiji Hamada, Yukari Nishida, Michiyo Higashi, Hiroshi Nishihara, Shinsuke Suzuki, Shinichi Ueno, Akihide Tanimoto . Comprehensive validation of liquid-based cytology specimens for next-generation sequencing in cancer genome analysis. . PloS one14 ( 6 ) e0217724 2019Reviewed International journal

Language：English Publishing type：Research paper (scientific journal)

In addition to conventional cytology, liquid-based cytology (LBC) is also used for immunocytochemistry and gene analysis. However, an appropriate method to obtain high quality DNA for next-generation sequencing (NGS) using LBC specimens remains controversial. We determined the optimal conditions for fixation with an alcohol-based fixative for LBC and DNA extraction using cultured cancer cell lines and clinical specimens. The extracted DNA was processed for NGS after the DNA quality was confirmed based on the DNA concentration and degree of degradation. The optimal conditions for cultured cells to obtain high quality DNA were to fix the cells at a density of 6 × 103 or 2 × 104 cells/mL and to use the magnetic bead-based DNA extraction method. Even after storing the fixed cells for 90 days, DNA extracted using the above and other extraction kits, including membrane-based methods, did not undergo degradation. Furthermore, 5-year-old residual LBC samples demonstrated high DNA quality that was suitable for NGS. Furthermore, a cancer genome panel analysis was successfully performed with DNA extracted from cultured cells fixed at 6 × 103 cells/mL for 90 days, and with DNA from residual LBC samples even after 1 year of storage. Residual LBC samples may be a useful source of DNA for clinical NGS to promote genome-based cancer medicine.

DOI： 10.1371/journal.pone.0217724

PubMed

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Inoue Kazutoshi, Nishikawa Takuro, Hiraki Tsubasa, Sasaki Hiromi, Yoshioka Takako, Nakagawa Shunsuke, Kodama Yuichi, Okamoto Yasuhiro, Tanimoto Akihide, Kawano Yoshifumi . A case report of spindle cell sarcoma of the forearm with diagnostic difficulty . The Japanese Journal of Pediatric Hematology / Oncology56 ( 2 ) 212 - 215 2019Reviewed

Language：English Publisher：The Japanese Society of Pediatric Hematology / Oncology

<p>A 1-year-and-9-month-old boy was referred to us for swelling of the left forearm. Magnetic resonance imaging revealed a solid tumor in the forearm about 6 cm in size. There was no metastatic lesion, and he underwent biopsy. Clinically, he was suspected of having infantile fibrosarcoma on the basis of the results of histopathological analysis and his clinical course. However, a central pathological review disclosed a suspicious myofibroma. Chemotherapy consisting of vincristine, actinomycin, and ifosfamide was carried out but the tumor size remained unchanged. Chemotherapy was discontinued 2 months after initiation. However, the tumor size increased 3 months after the discontinuation of chemotherapy; hence, he underwent marginal resection 4 months after the discontinuation of chemotherapy. The pathological diagnosis was unclassified spindle cell sarcoma. Local irradiation and 3 cycles of chemotherapy with vincristine, ifosfamide, and doxorubicin were carried out, and the treatment was completed. We recommend collecting another biopsy sample for histopathological examination if the pathological diagnosis is incompatible with the clinical course.</p>

DOI： 10.11412/jspho.56.212

CiNii Research

Mari Kirishima, Sohsuke Yamada, Mitsuhisa Shinya, Shun Onishi, Yuko Goto, Ikumi Kitazono, Tsubasa Hiraki, Michiyo Higashi, Akira I Hida, Akihide Tanimoto . An autopsy case of epignathus (immature teratoma of the soft palate) with intracranial extension but without brain invasion: case report and literature review. . Diagnostic pathology13 ( 1 ) 99 - 99 2018.12

BACKGROUND: Epignathus is a rare congenital orofacial teratoma infrequently associated with intracranial extension. Intracranial extension of an epignathus indicates a poor prognosis; however, only a small number of such cases have been reported. While there have been some studies reporting cases of epignathus expanding directly into the cranium, others have reported no communication between an epignathus and an intracranial tumor. CASE PRESENTATION: A fetus at gestational week 27 was suspected of having an epignathus with intracranial tumor as shown by ultrasonographic and magnetic resonance imaging. The fetus was stillborn and an autopsy was performed. An epignathus measuring 12 × 6 × 6 cm and weighing 270 g protruded from the mouth, with its base on the soft palate. An intracranial tumor weighing 14 g was located at the middle intracranial fossa and connected to the epignathus through the right side of the sella turcica. The intracranial tumor was encapsulated, and there was no invasion into the brain. Histologically, both the epignathus and intracranial tumor were immature teratomas, with neural and pulmonary components that were especially immature as compared to those of the internal organs and brain tissues of the fetus. CONCLUSION: There have been several reports of epignathus and intracranial tumors that did not communicate; therefore, careful evaluation is needed when a fetus is suspected of having an epignathus extending into an intracranial lesion. Our case supports the findings that an epignathus can directly expand into the cranium. Moreover, this is a rare case of an epignathus in which the intracranial lesion was encapsulated and did not invade the brain. These rare but important findings will provide additional, potential therapeutic strategies for gynecologists, neurosurgeons, and pathologists.

DOI： 10.1186/s13000-018-0776-y

PubMed

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