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Case Report 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 / Copyright

    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
    Copyright: © Herold et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 4093-4096
    |
    Published online on: January 22, 2018
       https://doi.org/10.3892/ol.2018.7836
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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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Copy and paste a formatted citation
Spandidos Publications style
Herold N, Wappenschmidt B, Markiefka B, Keupp K, Kröber S, Hahnen E, Schmutzler R and 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. Oncol Lett 15: 4093-4096, 2018.
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
Copy and paste a formatted citation
x
Spandidos Publications style
Herold N, Wappenschmidt B, Markiefka B, Keupp K, Kröber S, Hahnen E, Schmutzler R and 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. Oncol Lett 15: 4093-4096, 2018.
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
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