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

Hong Zheng; Mingming Yuan; Huanwen Wu; Rongrong Chen; Yunong Gao

doi:10.3389/fmed.2020.581982

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

Front Med (Lausanne). 2020 Nov 3:7:581982. doi: 10.3389/fmed.2020.581982. eCollection 2020.

Authors

Hong Zheng¹, Mingming Yuan², Huanwen Wu³, Rongrong Chen², Yunong Gao¹

Affiliations

¹ Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Gynecology, Peking University Cancer Hospital & Institute, Beijing, China.
² Geneplus-Beijing, Beijing, China.
³ Department of Pathology, Molecular Pathology Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Abstract

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.

Keywords: double germline mutations; mixed serous-endometrioid endometrial carcinoma; next-generation sequencing; tislelizumab; tumor heterogeneity.

Publication types

Case Reports