Carcinoma of the lower uterine segment diagnosed with Lynch syndrome based on MSH6 germline mutation: A case report.
Carcinoma of the lower uterine segment diagnosed with Lynch syndrome based on MSH6 germline mutation: A case report.
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基于 MSH6 种系突变诊断为林奇综合征的子宫下段癌：病例报告。
DOI：
10.1111/jog.13202
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发表时间：
2017
期刊：
影响因子：
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通讯作者：
Aoki D.
中科院分区：
文献类型：
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作者：
Adachi M;Banno K;Masuda K;Yanokura M;Iijima M;Takeda T;Kunitomi H;Kobayashi Y;Yamagami W;Hirasawa A;Kameyama K;Sugano K;Aoki D.
子宫下段子宫内膜癌（LUS）与MLH 1或MSH 2生殖系突变的Lynch综合征相关在此，我们报告一例46岁女性，因异常阴道出血，经MSH6种系突变诊断为Lynch综合征的LUS癌。她在39岁时患有直肠癌，有结肠癌家族史（父亲，75岁），胰腺癌（祖母，74岁）和结肠癌（祖母，85岁）。磁共振成像显示LUS中有一个肿瘤。子宫内膜活检显示子宫内膜样腺癌G1。由于她的癌症病史符合修订的Bethesda标准，我们检测了微卫星不稳定性，结果为阴性，但免疫组化检测到MSH6表达缺失。基因检测显示MSH6的有害生殖系突变，这与Lynch综合征相一致。据我们所知，这是第一例子宫内膜癌的LUS与MSH6种系突变。
Endometrial cancer in the lower uterine segment (LUS) is associated with Lynch syndrome withMLH1orMSH2germline mutation. Here, we report a case of carcinoma of the LUS diagnosed with Lynch syndrome based onMSH6germline 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 theMSH6expression was detected by immunohistochemistry. Genetic testing revealed deleterious germline mutation ofMSH6, which was compatible with Lynch syndrome. To our knowledge, this is the first case of endometrial carcinoma of the LUS withMSH6germline mutation.