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

Herold,Natalie; Wappenschmidt,Barbara; Markiefka,Birgid; Keupp,Katharina; Kröber,Sandra; Hahnen,Eric; Schmutzler,Rita; Rhiem,Kerstin

doi:10.3892/ol.2018.7836

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

Authors:
- Natalie Herold
- Barbara Wappenschmidt
- Birgid Markiefka
- Katharina Keupp
- Sandra Kröber
- Eric Hahnen
- Rita Schmutzler
- Kerstin Rhiem
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Affiliations: Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology, Medical Faculty, University Hospital of Cologne, D‑50931 Cologne, Germany, Institute for Pathology, University Hospital of Cologne, D‑50931 Cologne, Germany
Published online on: January 22, 2018 https://doi.org/10.3892/ol.2018.7836
Pages: 4093-4096
Copyright: © Herold et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

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. BRCA2‑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 BRCA2 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 BRCA2 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 BRCA1/2 mutations, as they may benefit from targeted therapy with poly (ADP-ribose) polymerase inhibitors.

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