国际妇产科学杂志

国际妇产科学杂志 ›› 2023, Vol. 50 ›› Issue (3): 302-305.doi: 10.12280/gjfckx.20221075

• 妇科肿瘤研究:论著 • 上一篇    下一篇

子宫浆液性癌20例分子学特征及临床分析

吴林林, 于景瑶, 胡艳萍()   

  1. 101149 首都医科大学附属北京潞河医院病理科
  • 收稿日期:2022-12-29 出版日期:2023-06-15 发布日期:2023-06-27
  • 通讯作者: 胡艳萍，E-mail：yphu92@163.com
  • 基金资助:
    北京市通州区科技计划项目(KJ2019CX001)

Molecular Characteristics and Clinical Analysis of 20 Cases of Uterine Serous Carcinoma

WU Lin-lin, YU Jing-yao, HU Yan-ping()   

  1. Department of Pathology, Beijing Luhe Hospital, Capital Medical University, Beijing 101149, China
  • Received:2022-12-29 Published:2023-06-15 Online:2023-06-27
  • Contact: HU Yan-ping, E-mail: yphu92@163.com

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摘要：

目的：总结子宫浆液性癌（uterine serous carcinoma，USC）的临床病理特征，探讨其分子分型及人表皮生长因子受体2（human epidermal growth factor receptor 2，HER2）的表达。方法：收集20例USC患者的临床资料，采用HE、免疫组织化学、Sanger测序和荧光原位杂交（fluorescence in situ hybridization，FISH）方法对石蜡标本进行检测，进行分子分型并分析HER2的表达。结果：USC占同期子宫内膜癌的8%，国际妇产科联盟（International Federation of Gynecology and Obstetrics，FIGO）Ⅰ期5例（25%）、Ⅱ期1例（5%）、Ⅲ期9例（45%）、Ⅳ期5例（25%）。癌组织可见乳头、腺腔、实性3种组织学结构；乳头宽大或细小，细胞易脱落，边缘不光滑；腺腔多呈裂隙样。细胞异型较大，可见奇异核，胞质透亮或嗜酸，核分裂象易见，13例（65%）可见脉管内癌栓。雌激素受体、孕激素受体、波形蛋白、WT1和P16阳性率分别为40%、25%、10%、35%、100%，Ki-67阳性率30%~80%。20例USC均未检测到DNA聚合酶ε（DNA polymerase epsilon，POLE）突变，MLH1、PMS2、MSH2、MSH6均阳性，16例（75%）P53错义突变，4例（25%）无义突变。HER2免疫组织化学染色3+者5例（25%），其中4例经FISH检测见扩增信号。结论：USC发病率较低，病理形态多样，免疫组织化学染色有助于其鉴别诊断。USC分子分型均为P53突变型，HER2有望成为USC治疗的潜在靶点。

关键词: 子宫浆液性癌, POLE, P53, 人表皮生长因子受体2, 分子学特征

Abstract:

Objective: To summarize the clinicopathological characteristics of uterine serous carcinoma (USC), and to investigate its molecular classification and human epidermal growth factor receptor 2 (HER2) expression. Methods: The clinical data of 20 USC patients were collected. HE, immunohistochemistry, Sanger sequencing and FISH were used to detect in USC patients, and the molecular typing and HER2 expression were analyzed. Results: USC accounted for 8% of endometrial cancers, with FIGO stage Ⅰ in 5 cases (25%), stage Ⅱ in 1 case (5%), stage Ⅲ in 9 cases (45%), and stage Ⅳ in 5 cases (25%). Three histological structures of papilla, glandular and solid were seen in the carcinoma tissue. The nipple is wide or small, the cells are easy to fall off, the edge is not smooth and the glandular lumen is mostly fissured. The cytoplasm was clear or eosinophilic and vascular invasion was observed in 13 cases (65%). The positive rates of ER, PR, Vimentin, WT1 and P16 were 40%, 25%, 10%, 35% and 100%, respectively, and the positive rates of Ki-67 were 30%-80%. POLE mutation was not detected in 20 UCS patients, MLH1, PMS2, MSH2 and MSH6 were all positive. There were 16 cases (75%) with P53 missense mutation and 4 cases (25%) with nonsense mutation. HER2 3+ was labeled by immunohistochemistry in 5 cases (25%), and amplified signal was detected by FISH in 4 cases. Conclusions: The incidence of USC was low and the pathological morphology of USC was diverse. Immunohistochemical staining was helpful for its diagnosis. The molecular typing of USC was abnormal P53, and HER2 was expected to be a therapeutic target.

Key words: Uterine serous carcinoma, POLE, P53, Human epidermal growth factor receptor 2, Molecular features