天津医药

天津医药 ›› 2017, Vol. 45 ›› Issue (12): 1304-1307.doi: 10.11958/20170709

• 临床研究 • 上一篇    下一篇

错配修复缺陷子宫内膜癌临床病理形态特征及临床意义

彭芳华 1,2， 庞淑洁 2， 刘易欣 1， 2   

  1. 作者单位： 1 天津医科大学 （邮编 300070）； 2 天津市中心妇产科医院 作者简介： 彭芳华 （1977）， 女， 硕士在读， 副主任医师， 主要从事妇产科超声及病理学研究
  • 收稿日期:2017-06-19 修回日期:2017-10-16 出版日期:2017-12-15 发布日期:2017-12-15
  • 通讯作者: 庞淑洁 E-mail:psjhello@163.com

Clinicopathologic features and clinical significance of endometrial carcinoma with mismatch repair deficiency

PENG Fang-hua1， 2, PANG Shu-jie2, LIU Yi-xin1， 2   

  1. 1 Tianjin Medical University, Tianjin 300070, China; 2 Tianjin Central Obstetrics and Gynecology Hospital
  • Received:2017-06-19 Revised:2017-10-16 Published:2017-12-15 Online:2017-12-15

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摘要： 目的 探讨碱基错配修复（MMR）缺陷子宫内膜癌的临床病理特征与临床意义。方法 收集天津市中心 妇产科医院常规开腹手术者中≤50 岁内膜癌患者共 108 例， 进行 4 种碱基错配修复（MMR）蛋白（MLH1、 MSH2、 MSH6 及 PMS2）的免疫组化检测， MMR 蛋白表达完全缺失提示 MMR 基因缺陷， 依据免疫组化结果进行分组。结 果 108 例内膜癌中， 33.3% （36 例） 至少 1 种 MMR 表达缺失。重点对 36 例 MMR 蛋白表达缺失患者行临床病理特 征分析并与对照组比较。31% 伴有深肌层侵犯， 25% 可见肿瘤细胞周围有密集的淋巴细胞浸润。35% 的内膜癌患 者合并黏液分化及透明细胞分化等多种分化方式， 14% 伴有异质性分化。20% 患者同时合并卵巢癌。背景内膜多 为增生期内膜。倾向深肌层侵犯、 多样性分化与异质性分化、 肿瘤周围淋巴细胞浸润、 同时合并卵巢癌及背景内膜 的特征与对照组相比差异有统计学意义。结论 MMR 缺陷子宫内膜癌具有区别于传统Ⅰ型及Ⅱ型内膜癌的特征。

关键词: 子宫内膜肿瘤, 基因, 结直肠肿瘤, 遗传性非息肉性, 免疫组织化学, MMR 基因, Lynch 综合征

Abstract: Objective To investigate the clinicopathologic features and clinical significance in mismatch repair (MMR) of deficient endometrial carcinoma. Methods A total of 108 endometrial carcinoma cases younger than 50 years of age who were underwent routine laparotomy in our hospital were included in this study. Immunohistochemistry staining was used for 4 MMR proteins (MLH1, MSH2, MSH6 and PMS2). Patients were divided into two groups (MMR deficiency group and MMR normal group) based on the results of immunohistochemistry staining. Results Thirty-three percent of cases (36 patients) showed at least one deletion of MMR protein expression. The clinicopathological features of 36 cases with deletion of MMR protein expression were analyzed. The 31% showed deep myometrium invasion and 25% were with intense lymphocyte infiltration around tumor cells. Thirty-five percent of endometrial carcinomas associated with mucinous, clear cell or other differentiations, and 14% with heterogeneity. Background endometrium of majority of the cases displayed proliferative endometrium. There were 20% cases complicated with ovarian carcinoma. Features included deep myometrium invasion, lymphocyte infiltration around tumor cells, multiple differentiations and complicated with ovarian carcinoma. There were significant differences in background endometrium between endometrial carcinoma combined with ovarian cancer group and control group. Conclusion MMR deficient endometrial carcinoma has characteristic features, which are different from both type I and type II endometrial carcinoma.

Key words: endometrial neoplasms, genes, colorectal neoplasms, hereditary nonpolypopsis, immunohistochemistry, MMR gene, Lynch syndrome