Abstract YO10
Case summary
A 39-year-old mother of five, presented with abdominal distension, and progressive anorexia in January 2013. Computed tomography (CT) revealed a large right ovarian mass with extensive peritoneal disease along with gross ascites. An image-guided biopsy from omentum was reported as aGCT. She was started on neoadjuvant chemotherapy (NACT) with carboplatin paclitaxel. She had cytoreductive surgery (CRS) after 6 cycles of NACT, with no macroscopic residual disease. Her disease recurred 12 months later and she received BEP (bleomycin, etoposide, cisplatin) for 4 cycles to obtain a partial response. On disease progression in October 2015, she was treated with pegylated liposomal doxorubicin (PLD) and carboplatin. At the next progression in September 2017 secondary CRS was offered, but she insisted upon non-surgical treatment. She remained on megestrol acetate until the next progression in October 2018, and this time she opted for surgery. Her secondary CRS involved splenectomy, pelvic and upper abdominal procedures. She received paclitaxel carboplatin for 6 cycles following secondary CRS, and on subsequent progression, in November 2019 her disease was rechallenged with PLD Carboplatin. In January 2021, there was progression in the abdomen and new lung metastasis. Her disease was found to be too extensive for surgery. A 50-gene somatic mutation assay did not identify any therapeutic target. Her germline mutation testing detected a heterozygous pathogenic variant in exon 11 of the BRCA2 gene. She was treated with Olaparib without any serious adverse events and had a disease control of 9 months.
Unlike epithelial ovarian cancer (EOC) BRCA mutations have not been reported in aGCT. In our patient, multiple platinum-sensitive recurrences similar to EOC and subsequent finding of BRCA2 mutation makes a case for further investigation of such aberrations in aGCT with possible therapeutic implications.
Clinical trial identification
Editorial acknowledgement
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