Universität zu Köln

Herold, Natalie, Wappenschmidt, Barbara, Markiefka, Birgid, Keupp, Katharina, Kroeber, Sandra, Hahnen, Eric, Schmutzler, Rita and Rhiem, Kerstin (2018). 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 (4). S. 4093 - 4097. ATHENS: SPANDIDOS PUBL LTD. ISSN 1792-1082

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Herold, Natalie UNSPECIFIED UNSPECIFIED UNSPECIFIED Wappenschmidt, Barbara UNSPECIFIED UNSPECIFIED UNSPECIFIED Markiefka, Birgid UNSPECIFIED UNSPECIFIED UNSPECIFIED Keupp, Katharina UNSPECIFIED UNSPECIFIED UNSPECIFIED Kroeber, Sandra UNSPECIFIED UNSPECIFIED UNSPECIFIED Hahnen, Eric UNSPECIFIED UNSPECIFIED UNSPECIFIED Schmutzler, Rita UNSPECIFIED UNSPECIFIED UNSPECIFIED Rhiem, Kerstin UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-190760
DOI:	10.3892/ol.2018.7836
Journal or Publication Title:	Oncol. Lett.
Volume:	15
Number:	4
Page Range:	S. 4093 - 4097
Date:	2018
Publisher:	SPANDIDOS PUBL LTD
Place of Publication:	ATHENS
ISSN:	1792-1082
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GYNECOLOGIC TRACT; BRCA2 MUTATIONS; CANCER; BREAST; TUMORS; SURVIVAL; CLASSIFICATION; REPAIR; SERIES; WOMEN Multiple languages Oncology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/19076