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Isolated Loss of PMS2 Immunohistochemical Expression is Frequently Caused by Heterogenous MLH1 Promoter Hypermethylation in Lynch Syndrome Screening for Endometrial Cancer Patients.

子宫内膜癌患者Lynch综合征筛查中PMS2免疫组化单独失表达常因异源性MLH启动子超甲基化所致

Kato A,Sato N,Sugawara T,Takahashi K,Kito M,Makino K,Sato T,Shimizu D,Shirasawa H,Miura H,Sato W,Kumazawa Y,Sato A,Kumagai J,Terada Y

Abstract

Lynch syndrome (LS) is an autosomal-dominant inherited disorder mainly caused by a germline mutation in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) and is associated with increased risk for various cancers, particularly colorectal cancer and endometrial cancer (EC). Women with LS account for 2% to 6% of EC patients; it is clinically important to identify LS in such individuals for predicting and/or preventing additional LS-associated cancers. PMS2 germline mutation (PMS2-LS) is the rarest contribution to LS etiology among the 4 LS-associated MMR germline mutations, and its detection is complicated. Therefore, prudent screening for PMS2-LS is important as it leads to an efficient LS identification strategy. Immunohistochemistry is recommended as a screening method for LS in EC. Isolated loss of PMS2 (IL-PMS2) expression is caused not only by PMS2-LS but also by MLH1 germline mutation or MLH1 promoter hypermethylation (MLH-PHM). This study aimed to determine the association between MLH1-PHM and IL-PMS2 to avoid inappropriate genetic analysis. We performed MLH1 methylation analysis and MLH1/PMS2 germline mutation testing on the IL-PMS2 cases. By performing MMR-immunohistochemistry on 360 unselected ECs, we could select 8 (2.2%) cases as IL-PMS2. Heterogenous MLH1 staining and MLH1-PHM were detected in 4 of 8 (50%) IL-PMS2 tumors. Of the 5 IL-PMS2 patients who underwent genetic analysis, 1 had PMS2 germline mutation with normal MLH1 expression (without MLH1-PHM), and no MLH1 germline mutation was detected. We suggest that MLH1 promoter methylation analysis for IL-PMS2 EC should be performed to exclude sporadic cases before further PMS2 genetic testing.

摘要

Lynch综合征是一种常染色体显性遗传性疾病,主要由DNA错配修复(MMR)基因(MLH1、MSH2、MSH6和PMS2)胚系突变引起,与发生各种癌症、特别是结直肠癌和子宫内膜癌(EC)风险增加有关。

LS女性占EC患者的2%-6%;识别这些个体中的LS患者以预测和/或预防其他LS相关癌有重要临床意义。4种LS相关MMR胚系突变中,PMS2胚系突变(PMS2-LS)是LS的罕见病因,其检测复杂。因此,精简筛查PMS2-LS非常重要,可使LS识别方案更为有效。免疫组化被推荐为EC中LS的筛查方法。PMS2(IL-PMS2)单独失表达不仅因PMS2-LS,还可能是因MLH1胚系突变或MLH1启动子超甲基化(MLH-PHM)所致。

本研究旨在明确MLH1-PHM和IL-PMS2之间的关系以避免不恰当的遗传学分析。对IL-PMS2病例行MLH1甲基化分析和MLH1/PMS2胚系突变检测。

360例未经选择的ECs病例经MMR免疫组化检出8(2.2%)例IL-PMS2,其中4(50%)例行异质性MLH1染色和MLH1-PHM检测。5例行遗传学分析的IL-PMS2患者中,1例PMS2胚系突变伴正常MLH1表达(无MLH1-PHM),未检出MLH1胚系突变。

我们认为进一步PMS2遗传学检测之前应进行IL-PMS2 EC MLH1启动子甲基化分析以除外散发病例。

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