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Lynch syndrome screening should be considered for all patients with newly diagnosed endometrial cancer.

应考虑对所有新诊断的子宫内膜癌患者进行Lynch综合征筛查

Mills AM,Liou S,Ford JM,Berek JS,Pai RK,Longacre TA

Abstract

Lynch syndrome (LS) is an autosomal dominant inherited disorder caused by germline mutations in DNA mismatch repair (MMR) genes. Mutation carriers are at substantially increased risk of developing cancers of the colorectum and endometrium, among others. Given recent recommendations for universal, cost-effective screening of all patients with newly diagnosed colorectal cancer using MMR protein immunohistochemistry, we evaluated MMR protein expression in a series of endometrial cancers in the general population. A total of 605 consecutive cases of primary endometrial cancer at a single institution (1997 to 2013) were evaluated regardless of age, family history, or histologic features. Evaluation methods consisted of immunohistochemistry for the MMR proteins MLH1, MSH2, MSH6, and PMS2, followed by DNA methylation analysis for cases with MLH1/PMS2 deficiency. Germline mutation testing was performed on a subset of cases. Forty MMR-deficient, nonmethylated endometrial cancers were identified: 3 MLH1/PMS2 and 37 MSH6/MSH2 protein deficiencies. Only 25% occurred in women below 50 years of age (range, 39 to 88 y), 1 of which was in a risk-reducing hysterectomy specimen. Only 15% of patients had a prior history of carcinoma, including only 2 patients with prior colorectal carcinoma. Most (80%) of the endometrial cancers were purely endometrioid; there were 2 mixed endometrioid/mucinous, 1 mucinous, 1 serous, 2 clear cell, and 2 carcinosarcoma cases. When grading was applicable, 40% of the endometrial malignancies were FIGO grade 1, 34% grade 2, and 26% grade 3. Thirteen percent arose in the lower uterine segment, and 23% had tumor-infiltrating lymphocytes. Of the tumors with known germline testing, 41% with a LS-associated germline mutation were not associated with any of the traditional indicators that have been recommended for LS screening (ie, age 50 y or younger, personal/family cancer pedigree that meets Bethesda guideline criteria, presence of MMR-associated tumor morphology, or location in the lower uterine segment). These data suggest that a significant number of LS-associated endometrial carcinomas are missed using clinical, histologic, and locational screening parameters and provide support for universal screening of all newly diagnosed endometrial cancers.

摘要

Lynch综合征(LS)是一种常染色体显性遗传性疾病,因DNA错配修复(MMR)基因胚系突变引起。突变携带者发生结直肠癌和子宫内膜癌的风险比其他人群显著增高。

考虑到最近推荐对所有新诊断的结直肠癌患者使用MMR蛋白免疫组织化学检测进行普遍的、效价比好的筛查,我们对一般人群中的一组子宫内膜癌行MMR蛋白表达评估。评估了某一机构(1997-2013)连续共计605例原发性子宫内膜癌病例,忽略年龄、家族史或组织学特征。

评估方法包括免疫组织化学检测MMR蛋白MLH1、MSH2、MSH6和PMS2,MLH1/PMS2缺陷病例随后行DNA甲基化分析。一部分病例行胚系突变检测。共检测出40例MMR缺陷、非甲基化子宫内膜癌病例:3例为MLH1/PMS2蛋白缺陷,37例为MSH6/MSH2蛋白缺陷。仅25%的病例发生于50岁以下的女性(39-88岁),其中1例发生于降低风险子宫切除标本。仅15%的患者先前有癌症病史,包括仅有的2例先前结直肠癌患者。大多数(80%)子宫内膜癌为纯的子宫内膜样癌;2例混合性子宫内膜样/粘液性癌,1例粘液性癌,1例浆液性癌,2例透明细胞癌,2例癌肉瘤。40%的子宫内膜恶性肿瘤为FIGO1级,34%为2级,26%为3级。13%的病例起源于子宫下段,23%出现肿瘤浸润性淋巴细胞。已知胚系检测结果的肿瘤中,41%呈LS-相关胚系突变的患者与任何推荐LS筛查的传统指征(如,年龄≤50岁,个人/家族癌谱系符合Bethesda指南,出现MMR相关肿瘤形态学或位于子宫下段)不相关。

这些数据表明运用临床、组织学和位置筛查参数,相当数量的LS相关子宫内膜癌被遗漏,这些数据也为所有新诊断的子宫内膜癌患者进行普遍筛查提供了支持。

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