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

Area of Science:

• Gynecologic Oncology
• Medical Genetics

Background:

• Primary peritoneal carcinoma (PPC) is a rare malignancy.
• PPC shares histological similarities with epithelial ovarian tumors (EOC), frequently causing misdiagnosis.
• The progressive nature of PPC necessitates timely diagnosis and treatment.

Observation:

• A 54-year-old woman was initially diagnosed with ovarian cancer.
• Further investigations revealed a Müllerian origin for PPC.
• The patient was found to have a targetable BRCA mutation.

Findings:

• The patient's PPC was confirmed to be of Müllerian origin.
• A significant finding was the presence of a BRCA mutation.
• Treatment involved BRCA-targeting agents post-surgery.

Implications:

• Accurate diagnosis of PPC is crucial due to its rarity and resemblance to EOC.
• BRCA mutations in PPC may indicate eligibility for targeted therapies.
• Targeted therapy combined with surgery can lead to favorable outcomes in PPC patients with BRCA mutations.