Cancer overturned: Endometrioma mimicking granulosa cell tumor and the importance of FOXL2 analysis

Abstract

BackgroundVarious ovarian neoplasms may show histological findings that are morphologically indistinguishable from adult granulosa cell tumor (AGCT). Case presentationA 36 year-old women presented with left lower extremity pain and numbness. Ultrasound revealed a 10 cm left adnexal mass treated with ovarian cystectomy. Histopathology revealed endometriotic cyst with intramural granulosa cell tumor. She underwent a laparoscopic left salpingo-oophorectomy and omental biopsy by Gynecologic Oncology. Pathologic review of residual ovarian abnormality prompted a molecular analysis. FOXL2 gene mutation was absent supporting the diagnosis of benign endometrioma. ConclusionsA somatic missense mutation in the FOXL2 gene is a sensitive molecular marker for AGCT. Mutation analysis can help distinguish malignant from benign pathology to provide appropriate treatment and disease surveillance.