Adrenocortical adenocarcinoma in an MSH2 carrier:: Coincidence or causal relation?
Adrenocortical adenocarcinoma in an MSH2 carrier:: Coincidence or causal relation?
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DOI：
10.1053/hupa.2000.20409
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发表时间：
2000-12-01
期刊：
影响因子：
3.3
通讯作者：
Kleibeuker, JH
中科院分区：
文献类型：
--
作者：
Berends, MJW;Cats, A;Kleibeuker, JH
一名妇女被描述谁开发卵巢腺癌，3异时性结直肠腺癌，和原发性肾上腺皮质腺癌。错配修复基因MLH1和MSH2的遗传学研究显示MSH2中存在种系突变。结直肠癌和卵巢癌属于遗传性非息肉病性结直肠癌（HNPCC）的肿瘤谱。然而，肾上腺皮质腺癌从未被描述为HNPC相关肿瘤之一。为了研究该患者的肾上腺皮质腺癌是否由MSH2种系突变引起，对其中1例结直肠肿瘤和肾上腺皮质腺癌进行了微卫星不稳定性（MSI）测定和免疫组化分析。MSH2蛋白表达的MSI和一般的损失可以看到在结直肠肿瘤，而不是在肾上腺皮质腺癌。因此，在该患者中发现的肾上腺皮质腺癌极不可能是由于她的遗传易感性HNPCC。Copyright（C）2000 by W.B.桑德斯公司
A woman is described who developed an ovarian adenocarcinoma, 3 metachronous colorectal adenocarcinomas, and a primary adrenocortical adenocarcinoma. Genetic investigation of the mismatch repair genes MLH1 and MSH2 showed a germline mutation in MSH2. Colorectal and ovarian carcinoma belong to the tumor spectrum of hereditary nonpolyposis colorectal cancer (HNPCC). Adrenocortical adenocarcinoma, however, has never been described as I of the HNPCC-associated tumors. To investigate whether the adrenocortical adenocarcinoma in this patient was caused by the MSH2 germline mutation, determination of microsatellite instability (MSI) and immunohistochemical analysis were performed on 1 of the colorectal tumors and the adrenocortical adenocarcinoma. MSI and general loss of MSH2 protein expression could be seen in the colorectal tumor but not in the adrenocortical adenocarcinoma. Therefore, it is highly unlikely that the adrenocortical adenocarcinoma found in this patient was due to her genetic predisposition for HNPCC. Copyright (C) 2000 by W.B. Saunders Company.