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

病例报告:原发性腹膜癌中的种系 BRCA2 突变:一种罕见的恶性肿瘤

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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.

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