Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2 -germline mutation carrier: A case report and brief review of the literature

• Published in: Oncology letters Vol. 15; no. 4; pp. 4093 - 4096
• Main Authors: Herold, Natalie, Wappenschmidt, Barbara, Markiefka, Birgid, Keupp, Katharina, Kröber, Sandra, Hahnen, Eric, Schmutzler, Rita, Rhiem, Kerstin
• Format: Journal Article
• Language: English
• Published: Greece Spandidos Publications UK Ltd 01.04.2018; D.A. Spandidos
• Subjects: Abdomen; Age; Antigens; Breast cancer; Cancer therapies; Case reports; Chemotherapy; Deoxyribonucleic acid; DNA; Family medical history; Genetic counseling; Laparoscopy; Metastasis; Mutation; Ovarian cancer; Prostate cancer; Surgery; Tumors; United States > US; Germany; neuroendocrine carcinoma; ovarian carcinoma; mutation; BRCA2; poly (ADP-ribose) polymerase inhibitor
• ISSN: 1792-1074; 1792-1082
• DOI: 10.3892/ol.2018.7836

Non-small cell neuroendocrine carcinomas (NSCNEC) account for 2% of gynecological cancer cases and are associated with a poor prognosis due to delayed diagnosis and aggressive tumor behavior. -associated ovarian carcinomas predominantly possess a high-grade serous phenotype, which respond to platinum and targeted therapy with PARP inhibitors. Presented here is the case of an adult patient with NSCNEC of the ovaries associated with a deleterious germline mutation. The pathogenic mutation was also confirmed on the somatic level, while the wild-type allele had a high variant fraction, suggesting loss of heterozygosity. To the best of our knowledge, this is the first report of an adult germline mutation carrier with the rare NSCNEC of the ovary phenotype. Therefore, ovarian cancer patients with histological subtypes other than high-grade serous carcinomas should be tested for mutations, as they may benefit from targeted therapy with poly (ADP-ribose) polymerase inhibitors.