Somatic gene mutations in malignant steroid cell tumours and response to multiple treatments

Abstract

Malignant ovarian steroid cell tumours are a rare subgroup of sex cord-stromal tumours. There are no systematic reviews on the associated treatments, and little is known about their genomic profile. We describe a case of a pelvic malignant ovarian steroid cell tumour in a premenopausal woman in her 40s. She received cytoreductive surgery and six cycles of paclitaxel+carboplatin+bevacizumab. After recurrence, the tumour was surgically removed again, followed by radiation and hormone blockade therapy. Complete remission was achieved after treatment with bleomycin, etoposide and cisplatin. She remained in a platinum-sensitive relapse state and subsequently received maintenance therapy with olaparib. Since the tumour was initially refractory to treatment, tissue specimens were screened for gene mutations using a next-generation sequencing oncology panel and a somatic variant detection system, which revealed somatic gene mutations in ARID1A, PIK3CA, TERT and ATM, some of which are involved in DNA repair.