慶應義塾研究者情報データベース

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• 2013年04月

  -

  2020年03月

  東海大学医学部, 専門診療学系産婦人科学, 助教

• 2017年10月

  -

  2018年09月

  Institut Gustave Roussy（Villejuif, France）, 博士研究員

• 2020年04月

  -

  2021年03月

  東海大学医学部, 基盤診療学系医療倫理学, 助教

• 2021年04月

  -

  2022年06月

  東海大学医学部, 基盤診療学系医療倫理学, 講師

• 2021年04月

  -

  2024年03月

  慶應義塾大学医学部, 臨床遺伝学センター, 非常勤講師

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• 2000年04月

  -

  2004年03月

  東海大学, 医学部, 医学研究科

  大学, 卒業

• 2009年04月

  -

  2013年03月

  東海大学, 医学研究科, 先端医科学専攻

  大学院, 単位取得退学, 博士

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• 博士（医学）, 東海大学, 課程, 2015年09月

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• Reflex sympathetic dystrophy-like unilateral erythema caused by a germline SCN9A variant

  Nakato D., Komatsu R., Ono I., Misu K., Nakano S., Goto Y., Miya F., Kosaki K.

  European Journal of Medical Genetics 81   105078 - 105078 2026年05月

  ISSN  17697212

  　概要を見る

  Reflex sympathetic dystrophy (RSD), currently categorized within the spectrum of complex regional pain syndrome (CRPS), is typically considered an acquired disorder characterized by disproportionate pain, erythema, and autonomic changes. In contrast, inherited erythromelalgia is a genetic pain disorder most often caused by gain-of-function variants in SCN9A encoding the Nav1.7 sodium channel and usually presents with bilateral, symmetric distal limb pain and redness. Here, we describe a multigenerational family with a strictly unilateral, trauma-triggered neurovascular pain phenotype associated with a previously unreported heterozygous germline SCN9A variant (c.4784T > G, p. Leu1595Arg). Affected individuals experienced episodic attacks in which minor mechanical or physiological stimuli induced progressive unilateral erythema, warmth, and severe pain spreading from the site of injury and sharply demarcated at the midline, without contralateral involvement. Attacks lasted hours to nearly one day and tended to decrease with age. The variant was absent from population databases and co-segregated with the phenotype within the family, fulfilling ACMG/AMP criteria for likely pathogenicity. The consistent unilateral distribution cannot be explained by mosaicism and is instead compatible with activation of ipsilateral segmental nociceptive and neurovascular reflex circuits that function largely independently across the spinal midline. We propose that excessive positive feedback between C-fiber activation and axon reflex–mediated neurogenic inflammation underlies attack propagation and duration. This framework also suggests therapeutic benefit from agents that interrupt activity-dependent transmitter release, such as gabapentinoids. These findings expand the phenotypic spectrum of SCN9A -related pain disorders and provide a genetically anchored model for unilateral RSD/CRPS-like neurovascular pain.

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• Towards sustainable hereditary breast and ovarian cancer surveillance: insights from a single-center survey

  Goto Y., Seki T., Nakato D., Nakamura K., Yoshihama T., Tanaka M., Ono I., Misu K., Kobayashi Y., Masuda K., Takaishi H., Yamagami W., Kosaki K.

  Journal of Human Genetics 2026年

  ISSN  14345161

  　概要を見る

  Hereditary breast and ovarian cancer (HBOC) syndrome, caused by pathogenic variants in BRCA1 or BRCA2, is associated with increased risks of breast, ovarian, pancreatic, and prostate cancers. Although long-term, multi-organ surveillance is recommended, real-world data on its implementation in Japan remain limited. We conducted a web-based cross-sectional survey among 274 individuals registered for a hybrid public lecture at Keio University Hospital in 2024; 121 responded (44.2%). Respondents included HBOC carriers, healthcare professionals, and the general public. Among 66 carriers, 57 were affected and 9 were unaffected. Although the sample size is small, surveillance uptake was high among affected carriers (89.5%). Approximately half of affected carriers undergoing surveillance reported satisfaction, while nearly half underwent surveillance at multiple institutions, suggesting fragmented care. Across all groups including healthcare professionals and the general public, the most acceptable annual cost was less than 50,000 yen. Healthcare professionals identified interdepartmental coordination and shortages of genetic specialists as major challenges. These exploratory findings suggest that affordability, convenience, interdepartmental and interfacility coordination, and the availability of genetic medicine professionals may be important considerations in efforts to develop sustainable HBOC surveillance systems in Japan.

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• Exploring Breast Cancer Risk Management in HBOC Patients: Image Surveillance Versus Risk-reducing Surgery

  Seki T., Kobayashi Y., Masuda K., Nakamura K., Yamada M., Goto Y., Misu K., Ono I., Nagayama A., Hayashida T., Kitagawa Y.

  Ｔｈｅ　Ｋｅｉｏ　Ｊｏｕｒｎａｌ　ｏｆ　Ｍｅｄｉｃｉｎｅ （The Keio Journal of Medicine）  74 （ 3 ） 130 - 137 2025年

  ISSN  00229717

  　概要を見る

  In Japan, the rising incidence of hereditary breast and ovarian cancer syndrome (HBOC) follows partial insurance coverage introduced in 2020. Compared with the general population (~11% lifetime risk), individuals with HBOC face a significantly higher lifetime risk of breast cancer (48%–76%), often presenting at younger ages. BRCA1 mutations are linked to triple-negative breast cancer, whereas BRCA2 mutations typically result in luminal-type disease. Key risk management strategies include surveillance and prophylactic surgery. Annual magnetic resonance imaging and mammography are recommended at younger ages than in the general population, despite concerns regarding contrast agents, radiation exposure, and examination-related burdens. Although risk-reducing mastectomy lowers breast cancer risk by over 90%, it remains underutilized because of cosmetic and psychological considerations. Nipple-sparing or skin-sparing mastectomy combined with immediate or delayed reconstruction offers a balance between risk reduction and postoperative outcomes, although safety and procedure details still warrant careful evaluation. Managing the high breast cancer risk associated with HBOC requires ongoing efforts to refine current strategies while minimizing patient burden. (DOI: 10.2302/kjm.2024-0021-RE; Keio J Med 74 (3): 130–137, September 2025)

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  • CiNii Research

• Current Situation and Future Directions of Risk-reducing Salpingo-oophorectomy

  Masuda K., Kobayashi Y., Seki T., Yoshihama T., Nakamura K., Goto Y., Yamada M., Nagayama A., Uchida S., Ono I., Misu K., Yokota M., Yamagami W.

  Ｔｈｅ　Ｋｅｉｏ　Ｊｏｕｒｎａｌ　ｏｆ　Ｍｅｄｉｃｉｎｅ （The Keio Journal of Medicine）  74 （ 3 ） 138 - 145 2025年

  ISSN  00229717

  　概要を見る

  High-grade serous carcinoma (HGSC), the most aggressive subtype of epithelial ovarian cancer, is strongly associated with hereditary breast and ovarian cancer (HBOC) syndrome and is primarily linked to germline BRCA1/2 pathogenic variants (PVs). The cumulative risks of ovarian cancer by the age of 70 years are 40% and 18% for carriers of BRCA1 and BRCA2 PVs, respectively. Risk-reducing salpingo-oophorectomy (RRSO) is a recommended preventive strategy that reduces the risk of ovarian cancer by more than 80% and may improve overall survival. However, surgical menopause after RRSO poses several challenges, including infertility and hormonal deficiency. Although the use of hormone replacement therapy may alleviate symptoms, it requires careful consideration of breast cancer risk. Emerging strategies, such as prophylactic salpingectomy with delayed oophorectomy, are being investigated to balance cancer prevention and patient quality of life. Further research is required to refine personalized prevention and management approaches for HBOC-associated ovarian cancer.

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  • CiNii Research

• Pancreatic Cancer in Hereditary Breast and Ovarian Cancer Syndrome: Is Early Detection Possible?

  Abe K., Kitago M., Kobayashi Y., Masuda K., Seki T., Yamada M., Goto Y., Ono I., Misu K., Nakamura K., Kitagawa Y.

  Ｔｈｅ　Ｋｅｉｏ　Ｊｏｕｒｎａｌ　ｏｆ　Ｍｅｄｉｃｉｎｅ （The Keio Journal of Medicine）  74 （ 3 ） 146 - 150 2025年

  ISSN  00229717

  　概要を見る

  A program of recruiting families with hereditary pancreatic cancer and hereditary breast and ovarian cancer (HBOC) syndrome as high-risk individuals for pancreatic cancer surveillance using magnetic resonance cholangiopancreatography (MRCP) and endoscopic ultrasound (EUS) has proven effective, resulting in the improvement of early detection rates and life expectancy. Given this, recent guidelines recommend pancreatic surveillance for patients with familial pancreatic cancer and pathological variants of ten genes, including BRCA1/2. In April 2021, our hospital established the HBOC Center, which is operated by nine departments, including obstetrics and gynecology, breast surgery, pancreatology, urology, medical genetics, dermatology, psychiatry and neurology, and oncology. Currently, MRCP or EUS is performed once or twice a year in 63 cases with pathogenic variants in 54 families. Although 4 cases (6.3%) revealed pancreatic microcysts or branched intraductal papillary mucinous neoplasms, no sign of pancreatic cancer was detected. Since January 2021, the germline BRCA1/2 test for companion diagnosis of pancreatic cancer has been covered by insurance, improving the accessibility of genetic testing among patients with pancreatic cancer. However, the BRCA1/2 positivity rate remains low at 1.3%, and its indication for use is very limited. The implementation of genetic testing, including BRCA1/2 analysis, is necessary for the prevention and early detection of pancreatic cancer in high-risk families. (DOI: 10.2302/kjm.2024-0018-OA; Keio J Med 74 (3): 146–150, September 2025)

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  • CiNii Research

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• 【周産期医学必修知識(第9版)】流産

  後藤 優美子, 石本 人士

  周産期医学 （(株)東京医学社）  51 （ 増刊 ） 229 - 233 2021年12月

  ISSN  0386-9881

• 【ゲノム時代の生殖内分泌学】ゲノムとロキタンスキー症候群

  高橋 千果, 後藤 優美子, 和泉 俊一郎

  HORMONE FRONTIER IN GYNECOLOGY （(株)メディカルレビュー社）  28 （ 2 ） 123 - 128 2021年06月

  ISSN  1340-220X

  　概要を見る

  ＜文献概要＞ロキタンスキー症候群(MRKH症候群)の診断が思春期になされた場合,罹患女性への衝撃は計り知れない。遺伝カウンセリングでは,常に本人ならびに家族を孤立させないよう配慮する。治療にあたっては,主科(産婦人科)を軸とした関連他科と,心理士を含めた種々の医療スタッフの相互協力が必要である。ゲノム解析の研究による子宮発生メカニズムの解明は未達であるが,その先にはiPS細胞での子宮再生(自己)臓器移植も夢ではない。さらなる研究によりMRKH症候群の治療や予防の道が開かれることが期待される。

• 【周産期相談310　お母さんへの回答マニュアル　第3版】産科編　妊娠初期　妊娠中の食事内容でおなかの赤ちゃんがアトピーになるといわれたのですが、本当でしょうか?

  後藤 優美子, 石本 人士

  周産期医学 （(株)東京医学社）  49 （ 増刊 ） 45 - 46 2019年12月

  ISSN  0386-9881

  　概要を見る

  ＜回答のポイント＞1)妊娠中に特定の食物除去を行っても、児のアトピー性皮膚炎の予防に有効ではない。2)妊娠中の食事制限により、妊婦の体重増加不良、胎児の成長障害など、母児に有害な栄養障害を生じる可能性がある。3)児のアレルギー性疾患発症の予防のためには、妊娠中に栄養素のバランスのよい食事を心がけることが大切である。(著者抄録)

• ゲノム医療における生涯教育　臨床検査技師の役割に期待

  和泉 俊一郎, 大貫 優子, 高橋 千果, 荒川 聡, 近藤 朱音, 森屋 宏美, 後藤 優美子, 篠田 真理, 楢山 知紗, 渥美 治世, 寺尾 まやこ, 大上 麻由里

  日本染色体遺伝子検査学会雑誌 （日本染色体遺伝子検査学会）  37 （ 1 ） 7 - 15 2019年05月

  ISSN  1884-3026

  　概要を見る

  現代のゲノム医療は、30年前の遺伝診療が出生前診断や遺伝疾患の再発相談等母子医療に偏った領域であったものが、ヒトゲノム計画が終結してポストゲノムの時代となって様相が一変した。その現場は多職種連携が最も活発なフィールドで、疾患の専門科主治医はもちろんのこと、時にはその科でクライアントへの支援を担当する作業・理学療法士、さらに心理士等との協働が必要である。さらに今、臨床検査技師がラボを出て我々の面談現場への参加を望まれている。本稿では、ゲノム医療の多職種協働での臨床検査技師の役割について論じ、そのために必要な、医学教育をめぐる生涯研修で押さえてほしい情報(特にNBM【Narrative-based Medicine】とコンピテンス)を解説した。(著者抄録)

• 【周産期医学必修知識第8版】産科編　妊娠中のマイナートラブル

  東郷 敦子, 後藤 優美子, 石本 人士

  周産期医学 （(株)東京医学社）  46 （ 増刊 ） 268 - 270 2016年12月

  ISSN  0386-9881

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