ArticleBMJ case reports2022
Somatic gene mutations in malignant steroid cell tumours and response to multiple treatments.
Article in BMJ case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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4 authors at 2 institutions in 1 country.
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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.
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