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

TL;DR

A 54-year-old woman with a BRCA2 mutation was diagnosed with primary peritoneal carcinoma, a rare cancer similar to ovarian cancer, and responded well to targeted treatment.

Contribution

This case report highlights a rare malignancy and the successful use of BRCA-targeting therapy in a misdiagnosed patient.

Findings

The patient was initially misdiagnosed with ovarian cancer but was found to have Müllerian primary peritoneal carcinoma.

The patient had a BRCA2 mutation, which allowed for targeted therapy and a positive prognosis.

PPC is a rare and rapidly progressing disease requiring timely and accurate diagnosis.

Abstract

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.

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.

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

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