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Verfasst von:Pfarr, Nicole [VerfasserIn]   i
 Leichsenring, Jonas [VerfasserIn]   i
 Penzel, Roland [VerfasserIn]   i
 Endris, Volker [VerfasserIn]   i
 Schirmacher, Peter [VerfasserIn]   i
 Stenzinger, Albrecht [VerfasserIn]   i
Titel:Mutational profiles of Brenner tumors show distinctive features uncoupling urothelial carcinomas and ovarian carcinoma with transitional cell histology
Verf.angabe:Nicole Pfarr, Silvia Darb‐Esfahani, Jonas Leichsenring, Eliane Taube, Melanie Boxberg, Ioana Braicu, Moritz Jesinghaus, Roland Penzel, Volker Endris, Aurelia Noske, Wilko Weichert, Peter Schirmacher, Carsten Denkert, Albrecht Stenzinger
E-Jahr:2017
Jahr:22 June 2017
Umfang:9 S.
Teil:volume:56
 year:2017
 number:10
 pages:758-766
 extent:9
Fussnoten:Gesehen am 20.09.2018
Titel Quelle:Enthalten in: Genes, chromosomes & cancer
Ort Quelle:New York, NY : Wiley-Liss, 1989
Jahr Quelle:2017
Band/Heft Quelle:56(2017), 10, Seite 758-766
ISSN Quelle:1098-2264
Abstract:Brenner tumors (BT) are rare ovarian tumors encompassing benign, borderline, and malignant variants. While the histopathology of BTs and their clinical course is well described, little is known about the underlying genetic defects. We employed targeted next generation sequencing to analyze the mutational landscape in a cohort of 23 BT cases (17 benign, 2 borderline, and 4 malignant) and 3 ovarian carcinomas with transitional cell histology (TCC). Copy number variations (CNV) were validated by fluorescence in-situ hybridization (FISH) and quantitative PCR-based copy number assays. Additionally, we analyzed the TERT promotor region by conventional Sanger sequencing. We identified 25 different point mutations in 23 of the analyzed genes in BTs and 10 mutations in 8 genes in TCCs. About 57% percent of mutations occurred in genes involved in cell cycle control, DNA repair, and epigenetic regulation processes. All TCC cases harbored TP53 mutations whereas all BTs were negative and none of the mutations observed in BTs were present in TCCs. CNV analysis revealed recurrent MDM2 amplifications in 3 out of 4 of the malignant BT cases with one case harboring a concomitant amplification of CCND1. No mutations were observed in the TERT promoter region in BTs and TCCs, which is mutated in about 50%-75% of urothelial carcinoma and in 16% of ovarian clear-cell carcinomas. In conclusion, our study highlights distinct genetic features of BTs, and detection of the triplet phenotype MDM2 amplification/TP53 wt/TERT wt may aid diagnosis of malignant BT in difficult cases. Moreover, selected genetic lesions may be clinically exploitable in a metastatic setting.
DOI:doi:10.1002/gcc.22480
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext ; Verlag: http://dx.doi.org/10.1002/gcc.22480
 Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/gcc.22480
 DOI: https://doi.org/10.1002/gcc.22480
Datenträger:Online-Ressource
Sprache:eng
K10plus-PPN:1581138431
Verknüpfungen:→ Zeitschrift

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