104例卵巢子宫内膜样癌中错配修复蛋白缺失的发生率及其相关临床病理特征

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  --本文经《美国外科病理学杂志》授权发布,其他媒体转载或引用须经《美国外科病理学杂志》同意,否则追究法律责任。
    Lynch综合征患者发生卵巢癌的风险率高达24%,然而,大多数机构并未将卵巢癌错配修复(mismatch repair,MMR)蛋白的普遍检测纳入标准惯例。我们回顾了104例未经筛选的卵巢子宫内膜样癌(ovarian endometrioid carcinomas,OEC)的各种临床病理特征,以确定是否有任何特征能预测MMR缺失。利用免疫组织化学方法检测所有4种MMR蛋白,并必要时进行MLH1启动子甲基化分析。总体而言,患者的平均年龄为55岁,肿瘤平均大小为12cm。大多数(72%)患者罹患I期肿瘤,63%的肿瘤为1级,30%患者伴发IA期子宫内膜的子宫内膜样癌。尽管肿瘤周围淋巴细胞和肿瘤间质内炎症少见,但肿瘤浸润淋巴细胞平均为47/10个高倍视野。子宫内膜异位症占71%,腺纤维瘤占14%,二者同时发生占肿瘤的14%。常见鳞状化生(63%)、透明细胞改变(32%)、黏液分化(24%)及性索样成分(13%)等化生改变。在随访的99例患者中,78%的患者存活良好,12%死于疾病,6%死于其他原因,以及4%带病存活。无甲基化的MMR缺失型OEC占本研究病例的7%,包括MSH2/MSH6(n=4)、MSH6(n=2)和PMS2(n=1)。所有这些肿瘤均为I期,71%为1级,57%伴发子宫内膜的子宫内膜样癌。在该组随访的患者中(n=5),所有患者均无疾存活(平均150个月)。由于在单变量分析中未发现与MMR缺失相关的临床病理特征,本研究强调,在OEC中进行MMR普遍筛查具有重要作用。
  Am J Surg Pathol 2019;43:235–243
美国外科病理学杂志中文版2019年第三期摘要NO.3
  (韩铭 翻译 张静 审校)

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