Carcinoma of the lower uterine segment diagnosed with Lynch syndrome based on MSH6 germline mutation: A case report

Masataka Adachi, Kouji Banno, Kenta Masuda, Megumi Yanokura, Moito Iijima, Takashi Takeda, Haruko Kunitomi, Yusuke Kobayashi, Wataru Yamagami, Akira Hirasawa, Kaori Kameyama, Kokichi Sugano, Daisuke Aoki

研究成果: Article

1 引用 (Scopus)


Endometrial cancer in the lower uterine segment (LUS) is associated with Lynch syndrome with MLH1 or MSH2 germline mutation. Here, we report a case of carcinoma of the LUS diagnosed with Lynch syndrome based on MSH6 germline mutation in a 46-year-old woman with abnormal vaginal bleeding. She had had rectal cancer at age 39 with a family history of colon cancer (father, 75 years), pancreatic cancer (paternal grandmother, 74 years), and colon cancer (maternal grandmother, 85 years). Magnetic resonance imaging showed a tumor in the LUS. Endometrial biopsy revealed endometrioid adenocarcinoma G1. As her cancer history met the revised Bethesda criteria, we examined microsatellite instability and the result was negative, but loss of the MSH6 expression was detected by immunohistochemistry. Genetic testing revealed deleterious germline mutation of MSH6, which was compatible with Lynch syndrome. To our knowledge, this is the first case of endometrial carcinoma of the LUS with MSH6 germline mutation.

ジャーナルJournal of Obstetrics and Gynaecology Research
出版物ステータスPublished - 2017 2 1


ASJC Scopus subject areas

  • Obstetrics and Gynaecology