Faculty Profiles - YAMAMOTO Hideki

Papers - YAMAMOTO Hideki

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中田英二, 藤原智洋, 国定俊之, 二川摩周, 山本英喜, 十川麗美, 加藤芙美乃, 片山晴喜, 板野拓人, 近藤彩奈, 平沢晃, 尾崎敏文

中国・四国整形外科学会雑誌 35 ( 3 ) 428 - 428 2023.11

がんゲノム医療における多遺伝子パネル検査(MGPT)の導入にむけた現状と課題

平沢晃, 山本英喜

日本臨床検査医学会誌 71 ( 補冊 ) 087 - 087 2023.10

症例報告からPrecision Medicineへ-第1部- 肝転移にKRAS変異を有するBRAF変異マイクロサテライト安定性直腸癌(BRAF-mutant microsatellite stable rectal cancer with KRAS mutation in liver metastasis)

重安邦俊, 山本英喜, 楳田祐三, 黒田新士, 寺石文則, 香川俊輔, 藤原俊義

日本癌治療学会学術集会抄録集 61回 ICCJ1 - 4 2023.10

When and how to enlighten citizens on genetics and hereditary cancer: a web survey of online video viewers. International journal

Reimi Sogawa, Takahito Wada, Noriyuki Yamashita, Mariko Kochi, Mashu Futagawa, Fumino Kato, Yusaku Urakawa, Yayoi Tanimura, Hideki Yamamoto, Shuta Tomida, Shinji Kosugi, Akira Hirasawa

Journal of community genetics 2023.9

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

With the rapid expansion of genomic medicine, more citizens are compelled to think about genetics in their daily lives. This study aims to explore appropriate types of educational media and methods to enlighten activities for genetics and hereditary cancer. We presented an 18-min YouTube video on genetics and hereditary cancer to participants at a scientific event, Science Agora 2020, and administered a web questionnaire to investigate their opinions about when and how citizens should start learning about genetics and hereditary cancer. We recruited 133 participants who watched the video, and 26.3% (35/133) responded to the questionnaire. Most of them were evaluated to understand and appreciate the contents of the video. They identified websites, or videos as suitable learning media, irrespective of their sex, age, or profession. They highlighted upper elementary school or junior high school as appropriate educational stages to start learning about genetics and hereditary cancer to facilitate collecting their own genetic information by themselves. Our findings show that educational institutions should provide opportunities to learn about genetics and hereditary cancers, especially for upper elementary school and junior high school students, using learning media, such as videos, depending on their level or demand.

DOI： 10.1007/s12687-023-00663-x

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Biobank Update Invited

H. Yamamoto, A. Hirasawa

Obsterical and Gynecological Practice 72 ( 9 ) 915 - 921 2023.9

網羅的がんゲノム医療時代の遺伝性腫瘍診療と遺伝カウンセリング遺伝性腫瘍のリスク評価・診断のための多遺伝子パネル検査受検例の施設横断的な検討(Hereditary tumor syndromes and genetic counseling in the era of cancer genomic medicine Cross-institutional case review of multi-gene panel testing for risk assessments and diagnosis of hereditary tumors)

山本英喜, 藤田裕子, 田村和朗, 浦川優作, 二川摩周, 十川麗美, 加藤芙美乃, 植野さやか, 重安邦俊, 原賀順子, 小川千加子, 河内麻里子, 深野智華, 甲斐恭平, 塩崎滋弘, 平沢晃

日本癌学会総会記事 82回 821 - 821 2023.9

がんゲノム医療における遺伝リテラシー向上に向けた取り組み

十川麗美, 二川摩周, 加藤芙美乃, 山下範之, 浦川優作, 植野さやか, 深野智華, 山本英喜, 冨田秀太, 平沢晃

BIO Clinica 38 ( 7 ) 635 - 637 2023.7

Language：Japanese Publisher：(株)北隆館

近年の遺伝子解析技術の進歩に伴い,個人が自身のゲノムや遺伝情報を入手する機会は急速に増加している。そのため,医療従事者のみならず,市民もゲノム情報に対する正しい知識を持つことが急務である。筆者らは,医療従事者・学生・市民を対象に,遺伝リテラシーの向上を目的とした取り組みを行ってきた。本稿では,その取り組みの一部を紹介する。(著者抄録)

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Musculoskeletal Tumor 骨・軟部腫瘍骨・軟部腫瘍におけるがん遺伝子プロファイリング検査骨・軟部腫瘍診療におけるがん遺伝子パネルの役割

中田英二, 藤原智洋, 国定俊之, 尾崎敏文, 豊岡伸一, 遠西大輔, 山本英喜, 二宮貴一朗, 冨田秀太, 平沢晃, 二川摩周, 田端雅弘

癌と化学療法 50 ( 3 ) 314 - 320 2023.3

ADAR1 is a promising risk stratification biomarker of remnant liver recurrence after hepatic metastasectomy for colorectal cancer. Reviewed International journal

Nanako Hata, Kunitoshi Shigeyasu, Yuzo Umeda, Shuya Yano, Sho Takeda, Kazuhiro Yoshida, Tomokazu Fuji, Ryuichi Yoshida, Kazuya Yasui, Hibiki Umeda, Toshiaki Takahashi, Yoshitaka Kondo, Hiroyuki Kishimoto, Yoshiko Mori, Fuminori Teraishi, Hideki Yamamoto, Hiroyuki Michiue, Keiichiro Nakamura, Hiroshi Tazawa, Toshiyoshi Fujiwara

Scientific reports 13 ( 1 ) 2078 - 2078 2023.2

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

Adenosine-to-inosine RNA editing is a process mediated by adenosine deaminases that act on the RNA (ADAR) gene family. It has been discovered recently as an epigenetic modification dysregulated in human cancers. However, the clinical significance of RNA editing in patients with liver metastasis from colorectal cancer (CRC) remains unclear. The current study aimed to systematically and comprehensively investigate the significance of adenosine deaminase acting on RNA 1 (ADAR1) expression status in 83 liver metastatic tissue samples collected from 36 patients with CRC. The ADAR1 expression level was significantly elevated in liver metastatic tissue samples obtained from patients with right-sided, synchronous, or RAS mutant-type CRC. ADAR1-high liver metastasis was significantly correlated with remnant liver recurrence after hepatic metastasectomy. A high ADAR1 expression was a predictive factor of remnant liver recurrence (area under the curve = 0.72). Results showed that the ADAR1 expression level could be a clinically relevant predictive indicator of remnant liver recurrence. Patients with liver metastases who have a high ADAR1 expression requires adjuvant chemotherapy after hepatic metastasectomy.

DOI： 10.1038/s41598-023-29397-z

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多遺伝子パネル検査を用いた遺伝性腫瘍診断の後方視的検討

藤田裕子, 田村和朗, 平沢晃, 山本英喜, 伊藤絢子, 多田陽香, 山根美代子, 三木利恵, 井上豊子, 永谷たみ, 和仁洋治, 高木慎二郎, 渡邉貴紀, 甲斐恭平

姫路赤十字病院誌 47 74 - 77 2023

Language：Japanese Publisher：姫路赤十字病院図書学術委員会

がんのうち遺伝性腫瘍は約10%である.遺伝性腫瘍の診断を目的とした遺伝学的検査として,多遺伝子パネル検査(MGPT:multi-gene panel testing)が自費診療下で臨床導入されている.当院でMGPTを提案された26例のうち22例が実施し,7例に遺伝性腫瘍原因遺伝子の病的バリアントが同定され,遺伝性腫瘍と診断された.同定された遺伝子はPALB2,ATM,MSH2,APC,RAD51D,BRCA2,CDH1であり,本人および血縁者の健康管理につながった.遺伝性腫瘍診断のためMGPTを実施するに至った状況は,従来の保険診療下での遺伝学的検査で診断がつかなかった場合や,コンパニオン診断およびがん遺伝子パネル検査が契機になった場合など多様であった.将来の本邦の遺伝性腫瘍の診断を考えるとき,本邦においてもMGPTが広く活用できる体制構築が強く求められる.(著者抄録)

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Liquid Biopsy Revealed HBOC Pedigree and Led to Medical Management Among the Relatives.

Chikako Ogawa, Akira Hirasawa, Reimi Sogawa, Kayoko Hasuoka, Shuta Tomida, Mashu Futagawa, Yusaku Urakawa, Mariko Kochi, Hideki Yamamoto, Keiichiro Nakamura, Hisashi Masuyama

Acta medica Okayama 76 ( 4 ) 479 - 483 2022.8

Language：English

A hereditary breast and ovarian cancer (HBOC) pedigree was detected via liquid biopsy, and cancer prevention was initiated for the patient's daughter, after receiving a definitive result from BRCA genetic testing. A 48-yearold woman with ovarian cancer was administered precision medicine, which used cell-free DNA from plasma. The results revealed a pathogenic variant of BRCA1 as a presumed germline pathogenic mutation. We confirmed the germline pathological variant BRCA1 c.81-1G> A and suggested treatment with a PARP inhibitor. One of her three children had the variant, was diagnosed as an unaffected pathogenic variant carrier, and was advised to initiate surveillance.

DOI： 10.18926/AMO/63908

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Biobank and residual sample use for medical research Invited

134 ( 2 ) 119 - 122 2022.8

遺伝性腫瘍に対する多遺伝子パネル検査

山本英喜, 平沢晃

病理と臨床 40 ( 臨時増刊号 ) 390 - 398 2022.4

Hemothorax and Bloody Ascites Caused by Vascular Ehlers-Danlos Syndrome. International journal

Shuichi Tanaka, Hiroyuki Honda, Kou Hasegawa, Koji Tomita, Reimi Sogawa, Hideki Yamamoto, Takao Hiraki, Akira Hirasawa, Fumio Otsuka

The American journal of medicine 135 ( 7 ) e210-e211 - e211 2022.3

Homologous Recombination Deficiencies and Hereditary Tumors International journal

Hideki Yamamoto, Akira Hirasawa

International Journal of Molecular Sciences 23 ( 1 ) 348 2022

Authorship：Lead author,　Corresponding author Language：English Publishing type：Research paper (scientific journal) Publisher：MDPI AG

Homologous recombination (HR) is a vital process for repairing DNA double-strand breaks. Germline variants in the HR pathway, comprising at least 10 genes, such as BRCA1, BRCA2, ATM, BARD1, BRIP1, CHEK2, NBS1(NBN), PALB2, RAD51C, and RAD51D, lead to inherited susceptibility to specific types of cancers, including those of the breast, ovaries, prostate, and pancreas. The penetrance of germline pathogenic variants of each gene varies, whereas all their associated protein products are indispensable for maintaining a high-fidelity DNA repair system by HR. The present review summarizes the basic molecular mechanisms and components that collectively play a role in maintaining genomic integrity against DNA double-strand damage and their clinical implications on each type of hereditary tumor.

DOI： 10.3390/ijms23010348

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Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report Reviewed

Mashu Futagawa, Hideki Yamamoto, Mariko Kochi, Yusaku Urakawa, Reimi Sogawa, Fumino Kato, Mika Okazawa-Sakai, Daisuke Ennishi, Katsunori Shinozaki, Hirofumi Inoue, Hiroyuki Yanai, Akira Hirasawa

Hereditary Cancer in Clinical Practice 19 ( 1 ) 2021.12

Authorship：Corresponding author Publishing type：Research paper (scientific journal) Publisher：Springer Science and Business Media LLC

<title>Abstract</title><sec>
<title>Background</title>
<italic>RAD51D</italic> (RAD51 paralog D) is an intermediate cancer susceptibility gene for primary ovarian cancer, including fallopian tube and peritoneal carcinomas and breast cancer. Although gynecological non-epithelial tumors such as uterine sarcomas are associated with genomic instability, including <italic>BRCA</italic> impairment, there is no clear evidence of the relationship between <italic>RAD51D</italic> variants and the risk of sarcoma development.

</sec><sec>
<title>Case presentation</title>
A Japanese woman in her 50s underwent multiple surgical resections and several regimens of chemotherapy for tumors that originated in the retroperitoneum and recurred in the peritoneum over a clinical course of approximately 4 years. The peritoneal tumor was histologically diagnosed as a leiomyosarcoma and was genetically identified to show a splice variant of <italic>RAD51D</italic> c.904-2A > T [NM_002878] through tumor profiling performed as a part of cancer precision medicine. The confirmatory genetic test performed after genetic counseling revealed that the <italic>RAD51D</italic> splicing variant detected in her tumor was of germline origin. In silico analyses supported the possible pathogenicity of the detected splice variant of <italic>RAD51D</italic> with a predicted attenuation in mRNA transcription and truncated protein production due to frameshifting, which was attributed to a single-nucleotide alteration in the splicing acceptor site at the 3′-end of intron 9 of <italic>RAD51D</italic>. Considering her unfavorable clinical outcome, which showed a highly aggressive phenotype of leiomyosarcoma with altered <italic>RAD51D</italic>, this case provided novel evidence for the relationship of a <italic>RAD51D</italic> splicing variant with malignant tumor development or progression. We report the findings of this rare case with possible involvement of the germline variant of <italic>RAD51D</italic> c.904-2A > T as a potential predisposing factor for malignant tumors, including leiomyosarcoma.

</sec><sec>
<title>Conclusions</title>
We present the findings of a case of leiomyosarcoma in the peritoneum of a female patient with a novel germline splicing variant of <italic>RAD51D</italic> as potential evidence for the pathogenicity of the variant and its involvement in the risk of sarcoma etiology and/or development. To the best of our knowledge, this is the first case report describing a leiomyosarcoma carrying a germline <italic>RAD51D</italic> splicing variant and elucidating its pathogenicity on the basis of computational prediction of the impairment of normal transcription and the presumed loss of functional protein production.

</sec>

DOI： 10.1186/s13053-021-00205-x

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Other Link： https://link.springer.com/article/10.1186/s13053-021-00205-x/fulltext.html

Pembrolizumab‐caused polyradiculoneuropathy as an immune‐related adverse event Reviewed International journal

Takashi Kurashige, Mineyo Mito, Hideki Yamamoto, Tomohito Sugiura, Takashi Onoe, Kazuya Kuraoka, Kikuo Nakano, Tsuyoshi Torii

Neuropathology 41 ( 4 ) 266 - 272 2021.8

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

Immune-related adverse events (irAEs) commonly involve the gastrointestinal tract, endocrine glands, skin, and liver, and rarely the nervous system. The pathomechanism of irAEs in the nervous system is unclear, and so characterizing these severe toxic effects is a priority, even if irAEs are uncommon in the nervous system. Our patient presented subacute muscle weakness and dysesthesia with colitis as irAEs caused by pembrolizumab, one of the anti-programmed death-1 (PD-1) antibodies. Electromyography revealed abundant fibrillations and fasciculations of upper and lower extremities and severe reduction in motor unit potentials; however, antineutrophil cytoplasmic antibodies, rheumatoid factor, autoantibodies against Hu and Yo, and anti-ganglioside antibodies, such as GQ1b, were undetectable in the serum. Although he was treated with high-dose glucocorticoids, antibiotics, and a monoclonal anti-tumor necrosis factor alpha (TNFα) antibody, he developed colonic perforation. The total colorectal resection was performed, and the resected colon showed mucosal defect and perforation. He died of lung aspergillosis. Postmortem examination revealed CD8-positive lymphocyte infiltration around neurons of dorsal root ganglia. The sciatic nerve displayed the widening of myelin laminae and thinning of myelinated fibers but not a decrease in the density of myelinated nerve fibers. In the sural nerve, the density of myelinated fibers slightly decreased, and some fibers showed less densely myelinated laminae. Drug safety information, including previous randomized trials of anti-PD-1 and anti-cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) antibodies, showed that patients treated with anti-PD-1 antibodies appeared to have more frequent and severe peripheral neuropathies compared to those in patients who received anti-CTLA-4 antibodies (1.59% vs. 0.69%; Fisher exact test, P < 0.001; three severe events vs. zero severe events). The present results and drug safety information suggest that the pathomechanism of irAEs caused by anti-PD-1 antibodies is different from that by anti-CTLA-4 antibodies. The neurological irAEs might be clues to solving the pathomechanism of irAEs.

DOI： 10.1111/neup.12729

PubMed

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Other Link： https://onlinelibrary.wiley.com/doi/full-xml/10.1111/neup.12729

SMAD4 Germline Pathogenic Variant-Related Gastric Juvenile Polyposis with Adenocarcinoma Treated with Laparoscopic Total Gastrectomy: A Case Report International journal

Yuya Sakurai, Satoru Kikuchi, Kunitoshi Shigeyasu, Yoshihiko Kakiuchi, Takehiro Tanaka, Hibiki Umeda, Masaki Sakamoto, Sho Takeda, Shuya Yano, Mashu Futagawa, Fumino Kato, Reimi Sogawa, Hideki Yamamoto, Shinji Kuroda, Yoshitaka Kondo, Fuminori Teraishi, Hiroyuki Kishimoto, Masahiko Nishizaki, Shunsuke Kagawa, Akira Hirasawa, Toshiyoshi Fujiwara

American Journal of Case Reports 22 e932241 2021.5

Language：English Publishing type：Research paper (scientific journal) Publisher：International Scientific Information, Inc.

BACKGROUND Juvenile polyposis syndrome is an uncommon, autosomal-dominant hereditary disease that is distinguished by multiple polyps in the stomach or intestinal tract. It is associated with a high risk of malignancy. Pathogenic variants in SMAD4 or BMPR1A account for 40% of all cases. CASE REPORT A 49-year-old woman underwent esophagogastroduodenoscopy because of exacerbation of anemia. She had numerous erythematous polyps in most parts of her stomach. Based on biopsy findings, juvenile polyposis syndrome (JPS) was suspected morphologically, but there was no evidence of malignancy. Colonoscopy showed stemmed hyperplastic polyps and an adenoma; video capsule endoscopy revealed no lesions in the small intestine. After preoperative surveillance, laparoscopic total gastrectomy with D1 lymph node dissection was performed to prevent malignant transformation. The pathological diagnosis was juvenile polyp-like polyposis with adenocarcinoma. In addition, a germline pathogenic variant in the SMAD4 gene was detected with genetic testing. CONCLUSIONS JPS can be diagnosed with endoscopy and genetic testing. Further, appropriate surgical management may prevent cancer-related death in patients with this condition.

DOI： 10.12659/ajcr.932241

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遺伝性平滑筋腫症-腎細胞癌症候群関連腎細胞癌の術後骨転移に対してイピリムマブ・ニボルマブ併用療法が有効であった1例

渡部智文, 榮枝一磨, 津川昌也, 関戸崇了, 富永悠介, 高本篤, 定平卓也, 小林泰之, 荒木元朗, 渡邉豊彦, 小田和歌子, 黒田直人, 十川麗美, 山本英喜, 平沢晃, 那須保友

西日本泌尿器科 83 ( 1 ) 31 - 36 2021.4

Language：Japanese Publisher：西日本泌尿器科学会

症例は45歳,男性。X-1年9月に肉眼的血尿と右腰痛を主訴に当院を受診し,単純CTで右腎上極に長径5cm大の腫瘤を認めた。腹部造影CTでは動脈相で早期濃染,後期相でwashout patternを伴う内部不整な腫瘤を同部位に認めたが,明らかなリンパ節・他臓器転移を認めなかった。右腎癌cT1bN0M0 Stage Iと診断し,同年10月に腹腔鏡下右腎摘除術を施行した。病理所見は,腫瘍細胞は淡明細胞や好酸性細胞が乳頭状・管状の構造を取り,細胞質に好酸性の核小体および核周囲明庭を認めた。Fumarate hydratase(FH)免疫染色陰性でFH欠損腎細胞癌と診断した。術後2ヵ月で多発骨転移を認め,International Metastatic RCC Database Consortium(IMDC) intermediate riskと判断し,イピリムマブ・ニボルマブ併用療法を開始した。4コース施行後,CT上新規の転移巣や転移巣の増大を認めなかった。遺伝学的検査でFH遺伝子の病的バリアントを認め,腎細胞癌の家族歴と合わせ,遺伝性平滑筋腫症-腎細胞癌症候群(hereditary leiomyomatosis and renal cell carcinoma syndrome;HLRCC)関連腎細胞癌と診断した。現在ニボルマブ単剤投与を継続中で,骨転移増悪や新規遠隔転移は認めていない。(著者抄録)

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グルココルチコイド反応性アルドステロン症の1家系に発症前診断しえた2例

中野靖浩, 岩田菜穂子, 長谷川高誠, 越智可奈子, 山本紘一郎, 高瀬了輔, 長谷川功, 堀口繁, 山本英喜, 平沢晃, 大塚文男

日本内分泌学会雑誌 96 ( 3 ) 782 - 782 2021.1

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Papers - YAMAMOTO Hideki