Case of Gynandroblastoma of the Ovary with Raised AFP and Associated DICER 1 Mutation

The case report depicts a 16-year-old female, who presented with complaints of an abdominal mass extending up to the xiphisternum. A CECT of the abdomen and pelvis showed a large right ovarian mass, solid cystic in consistency with raised alfa-fetoprotein. The patient underwent a right salpingo-oophorectomy. The frozen section histopathology showed a Sex cord-stromal tumor. The fertility-sparing staging surgery was performed, considering the young age of the patient. The final histopathology with immunohistochemistry revealed it to be a case of Gynandroblastoma [Sertoli Leydig cell component is intermediate to poorly differentiated (80%) + Juvenile Granulosa Cell Tumour (20%)]. The final FIGO stage was stage IA, grade 3. The patient was given adjuvant chemotherapy (4 cycles of BEP). NGS analysis showed a mutation in the DICER1 gene. The follow-up at 12 months post-treatment of the patient is recurrence-free with serum tumor marker AFP within the normal range.