Case report: Germline BRCA 2 mutation in primary peritoneal carcinoma: a rare malignancy

Yan-Ying Huang; Yue Zhang; Wen-Jun Xie; Zhao-Dong Li

doi:10.3389/fonc.2024.1428918

Case report: Germline BRCA 2 mutation in primary peritoneal carcinoma: a rare malignancy

Front Oncol. 2024 Sep 3:14:1428918. doi: 10.3389/fonc.2024.1428918. eCollection 2024.

Authors

Yan-Ying Huang¹, Yue Zhang², Wen-Jun Xie³, Zhao-Dong Li⁴

Affiliations

¹ Department of Pathology, Hangzhou Red Cross Hospital, Hangzhou, China.
² Department of Radiology, Hangzhou Red-Cross Hospital, Hangzhou, China.
³ Department of Pathology, Zhejiang Hospital of Traditional Chinese Medicine, Hangzhou, China.
⁴ Department of Clinical laboratory, Hangzhou Red Cross Hospital, Hangzhou, China.

Abstract

Background: Primary peritoneal carcinoma (PPC) is a rare malignancy. Clinically, its histological morphology resembles that of epithelial ovarian tumors (EOC), often leading to misdiagnosis. Diagnosis and treatment of PPC are time-sensitive because of the rapidly progressive nature of the disease.

Case report: Herein, we report the case of a 54-year-old woman who was initially diagnosed with ovarian cancer; however, extensive workup showed evidence of Müllerian PPC origin. Furthermore, the patient harbored a targetable BRCA mutation.

Conclusion: The patient was treated with the BRCA-targeting agents and had a good prognosis after surgery.

Keywords: BRCA 2; CA125; PARP; epithelial ovarian tumor; primary peritoneal carcinoma.

Publication types

Case Reports

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This study was supported by the Zhejiang Province Science and Technology Planning Project for Medicine and Healthcare (Grant no.2023KY971).