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

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 wo...

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Detalles Bibliográficos
Autores principales: Zheng, Hong, Yuan, Mingming, Wu, Huanwen, Chen, Rongrong, Gao, Yunong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670051/
https://www.ncbi.nlm.nih.gov/pubmed/33224963
http://dx.doi.org/10.3389/fmed.2020.581982
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author Zheng, Hong
Yuan, Mingming
Wu, Huanwen
Chen, Rongrong
Gao, Yunong
author_facet Zheng, Hong
Yuan, Mingming
Wu, Huanwen
Chen, Rongrong
Gao, Yunong
author_sort Zheng, Hong
collection PubMed
description 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.
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spelling pubmed-76700512020-11-20 Case Report: Double Germline Mutations in BRCA1 and MSH2 in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma Zheng, Hong Yuan, Mingming Wu, Huanwen Chen, Rongrong Gao, Yunong Front Med (Lausanne) Medicine 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. Frontiers Media S.A. 2020-11-03 /pmc/articles/PMC7670051/ /pubmed/33224963 http://dx.doi.org/10.3389/fmed.2020.581982 Text en Copyright © 2020 Zheng, Yuan, Wu, Chen and Gao. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Medicine
Zheng, Hong
Yuan, Mingming
Wu, Huanwen
Chen, Rongrong
Gao, Yunong
Case Report: Double Germline Mutations in BRCA1 and MSH2 in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma
title Case Report: Double Germline Mutations in BRCA1 and MSH2 in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma
title_full Case Report: Double Germline Mutations in BRCA1 and MSH2 in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma
title_fullStr Case Report: Double Germline Mutations in BRCA1 and MSH2 in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma
title_full_unstemmed Case Report: Double Germline Mutations in BRCA1 and MSH2 in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma
title_short Case Report: Double Germline Mutations in BRCA1 and MSH2 in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma
title_sort case report: double germline mutations in brca1 and msh2 in a patient with mixed serous-endometrioid endometrial carcinoma
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670051/
https://www.ncbi.nlm.nih.gov/pubmed/33224963
http://dx.doi.org/10.3389/fmed.2020.581982
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