Case Report: Double Germline Mutations in BRCA1 and MSH2 in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma

被引：0

作者：

Zheng, Hong ^{[1
]}

Yuan, Mingming ^{[2
]}

Wu, Huanwen ^{[3
]}

Chen, Rongrong ^{[2
]}

Gao, Yunong ^{[1
]}

机构：

[1] Peking Univ Canc Hosp & Inst, Key Lab Carcinogenesis & Translat Res, Minist Educ, Dept Gynecol, Beijing, Peoples R China

[2] Geneplus Beijing, Beijing, Peoples R China

[3] Chinese Acad Med Sci & Peking Union Med Coll, Dept Pathol, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Beijing, Peoples R China

来源：

FRONTIERS IN MEDICINE | 2020年 / 7卷

关键词：

double germline mutations; mixed serous-endometrioid endometrial carcinoma; next-generation sequencing; tislelizumab; tumor heterogeneity; CANCER; WOMEN; RISK;

D O I：

10.3389/fmed.2020.581982

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mixed serous-endometrioid endometrial carcinoma is a type of endometrial cancer with relatively low incidence. The genetic factors contributing to the tumorigenesis of mixed carcinoma remains to be explored. Here, we report the first identification of two germline mutations in BRCA1 and MSH2 in a woman with mixed serous papillary adenocarcinoma and endometrioid carcinoma. Immunohistochemistry analysis showed loss of MSH2 and MSH6 protein expression in the endometrioid component. The patient showed partial response to tislelizumab treatment following progression on chemotherapy. Two germline mutations in BRCA1 and MSH2 may collectively promote the tumorigenesis of uterine endometrium with two distinct histological components.

引用

页数：5

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