Significant frequency of MSH2/MSH6 abnormality in ovarian endometrioid carcinoma supports histotype-specific Lynch syndrome screening in ovarian carcinomas
Significant frequency of MSH2/MSH6 abnormality in ovarian endometrioid carcinoma supports histotype-specific Lynch syndrome screening in ovarian carcinomas
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DOI：
10.1111/his.12934
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发表时间：
2016-08-01
期刊：
影响因子：
6.4
通讯作者：
Kobel, Martin
中科院分区：
文献类型：
--
作者：
Rambau, Peter F.;Duggan, Maire A.;Kobel, Martin
卵巢癌的Lynch综合征筛查是有争议的。本研究的目的是评估频率的错配修复缺陷（dMMR）蛋白在一个回顾性队列中丰富的非高级别浆液性癌和其与组织学types.Methods和resultsTissue芯片代表612卵巢癌的结果进行了测试错配修复蛋白（MLH 1，PMS 2，MSH 2和MSH 6）免疫组化。dMMR在类甲状腺癌和透明细胞癌中的检出率分别为13.8%和2.4%，而在其他组织学类型中均未检出。25例乳腺癌中，11例MLH 1/PMS 2异常，10例MSH 2/MSH 6异常，4例仅MSH 6异常，提示至少7.7%的乳腺癌有可能与Lynch综合征有关。4例dMMR透明细胞癌中3例MSH 2/MSH 6异常，1例仅MSH 6异常，均可能与Lynch综合征有关。在乳腺癌中，dMMR与年龄显著相关
AimsLynch syndrome screening in ovarian carcinoma is controversial. The aim of this study was to assess the frequency of deficient mismatch repair (dMMR) protein in a retrospective cohort enriched for non-high-grade serous carcinomas and its association with outcome within histological types.Methods and resultsTissue microarrays representing 612 ovarian carcinomas were tested for mismatch repair proteins (MLH1, PMS2, MSH2, and MSH6) by immunohistochemistry. dMMR was detected in 13.8% of endometrioid and 2.4% of clear cell carcinomas, but not in other histological types. Within endometrioid carcinomas, 11 of 25 dMMR cases showed abnormal MLH1/PMS2, 10 cases showed abnormal MSH2/MSH6, and four cases showed only abnormal MSH6, indicating that at least 7.7% of endometrioid carcinomas have dMMR probably related to Lynch syndrome. The four dMMR clear cell carcinomas showed abnormal MSH2/MSH6 in three cases and only abnormal MSH6 in one case, all probably related to Lynch syndrome. Within endometrioid carcinomas, dMMR was significantly associated with age