Sertoli-Leydig cell tumor with DICER1 mutation

Sertoli-Leydig cell tumors (SLCT) are a rare form of sex cord stromal tumors. DICER1 germline mutations have been identified in a portion of these cases. We report a 15 -year -old individual who presented to a well -child visit with secondary amenorrhea and subjective observations of a deepening voice and broadening shoulders. Elevations were noted in serum testosterone, inhibin B, androstenedione, and DHEA. Pelvic ultrasound and magnetic resonance imaging (MRI) revealed a left ovarian complex lesion measuring 5.8 x 5.5 x 4.6 cm. A laparoscopic unilateral salpingo-oophorectomy was performed with negative pelvic washings and a diagnosis of stage 1A, poorly differentiated/grade 3 SLCT of the ovary. Somatic and germline testing both demonstrated DICER1 pathologic variations. Adjuvant chemotherapy with cisplatin/etoposide/ifosfamide (PEI) was completed under the care of pediatric oncology, and this patient is now undergoing surveillance with no signs of recurrence. DICER1 Syndrome is associated with multiple tumors, including SLCT, pleuropulmonary blastoma (PPB), cystic sarcomas, and Wilms tumor among others. Patients with SLCT found to have a DICER1 mutation should undergo genetic testing and cancer screening, which may help to identify neoplasms associated with the DICER1 mutation at an early stage. This case will serve as a useful addition to the literature and review suggested pre -operative, operative, and surveillance guidelines.