Background: BRCA1 mutation carriers are at high risk of developing epithelial ovarian cancer, but the transitional cell variant has not been previously reported in these patients.
Case: A nulligravid, perimenopausal woman underwent exploratory laparotomy for a pelvic mass, ascites, and omental caking. Intraoperatively, frozen section of a tumor implant revealed high-grade epithelial ovarian carcinoma. Optimal surgical cytoreduction was performed. The final surgical pathology confirmed International Federation of Gynecology and Obstetrics stage IIIC transitional cell ovarian carcinoma. Her family history was significant for a sister with premenopausal breast cancer and a paternal aunt with ovarian cancer. The patient was counseled and elected to undergo genetic testing. Comprehensive gene sequence analysis detected the germline BRCA1 5382insC mutation.
Conclusion: Transitional cell ovarian carcinoma is a rare histologic variant of epithelial ovarian cancer that may occur in BRCA1 mutation carriers.