韩国一名绝经后女性在患结肠癌后被诊断出患有子宫内膜癌且存在种系突变的病例报告。
Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in in Korea.
作者信息
Lee Hyun Jung, Lee Min Hee, Choi Min Chul, Jung Sang Geun, Joo Won Duk, Kim Tae Hoen, Lee Chan, Jang Ja-Hyun
机构信息
Comprehensive Gynecologic Cancer Center, Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
Department of Pathology, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
出版信息
J Menopausal Med. 2017 Apr;23(1):69-73. doi: 10.6118/jmm.2017.23.1.69. Epub 2017 Apr 28.
Abstract
We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (), associated with Lynch syndrome. A 60-year-old Korean woman had a personal history of colon cancer 23 years ago. She also had a family history of endometrial cancer and colon cancer of her sisters and brothers. Immunohistochemistry was negative for MutL homolog 1 () and positive for MutS homolog 2 (). Based on these findings, she underwent genetic counseling and testing that revealed a frameshift germline mutation at (c. 3261dupC).
摘要
我们报告一例患有错配修复蛋白同源物6（MutS homolog 6，MSH6）种系突变且与林奇综合征相关的子宫内膜癌患者。一名60岁的韩国女性在23年前有结肠癌个人史。她的兄弟姐妹也有子宫内膜癌和结肠癌家族史。免疫组化显示错配修复蛋白同源物1（MutL homolog 1，MLH1）阴性，错配修复蛋白同源物2（MutS homolog 2，MSH2）阳性。基于这些发现，她接受了遗传咨询和检测，结果显示在（c. 3261dupC）处存在一个移码种系突变。
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