Open Access

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
  • View Affiliations

  • 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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April 2018
Volume 15 Issue 4

Print ISSN: 1792-1074
Online ISSN:1792-1082

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APA
Herold, N., Wappenschmidt, B., Markiefka, B., Keupp, K., Kröber, S., Hahnen, E. ... Rhiem, K. (2018). Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature. Oncology Letters, 15, 4093-4096. https://doi.org/10.3892/ol.2018.7836
MLA
Herold, N., Wappenschmidt, B., Markiefka, B., Keupp, K., Kröber, S., Hahnen, E., Schmutzler, R., Rhiem, K."Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature". Oncology Letters 15.4 (2018): 4093-4096.
Chicago
Herold, N., Wappenschmidt, B., Markiefka, B., Keupp, K., Kröber, S., Hahnen, E., Schmutzler, R., Rhiem, K."Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature". Oncology Letters 15, no. 4 (2018): 4093-4096. https://doi.org/10.3892/ol.2018.7836