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Collecting Duct Carcinomas Represent a Unique Tumor Entity Based on Genetic Alterations

Collecting duct carcinoma (CDC) is a rare renal neoplasm that is associated with poor prognosis due to its highly aggressive course and limited response to immuno- or chemotherapy. Histologically, CDC is defined as a subtype of renal cell carcinomas, but in some cases, it is difficult to differentia...

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Autores principales: Becker, Frank, Junker, Kerstin, Parr, Martin, Hartmann, Arndt, Füssel, Susanne, Toma, Marieta, Grobholz, Rainer, Pflugmann, Thomas, Wullich, Bernd, Strauss, Arne, Behnes, Carl Ludwig, Otto, Wolfgang, Stöckle, Michael, Jung, Volker
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3805592/
https://www.ncbi.nlm.nih.gov/pubmed/24167600
http://dx.doi.org/10.1371/journal.pone.0078137
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author Becker, Frank
Junker, Kerstin
Parr, Martin
Hartmann, Arndt
Füssel, Susanne
Toma, Marieta
Grobholz, Rainer
Pflugmann, Thomas
Wullich, Bernd
Strauss, Arne
Behnes, Carl Ludwig
Otto, Wolfgang
Stöckle, Michael
Jung, Volker
author_facet Becker, Frank
Junker, Kerstin
Parr, Martin
Hartmann, Arndt
Füssel, Susanne
Toma, Marieta
Grobholz, Rainer
Pflugmann, Thomas
Wullich, Bernd
Strauss, Arne
Behnes, Carl Ludwig
Otto, Wolfgang
Stöckle, Michael
Jung, Volker
author_sort Becker, Frank
collection PubMed
description Collecting duct carcinoma (CDC) is a rare renal neoplasm that is associated with poor prognosis due to its highly aggressive course and limited response to immuno- or chemotherapy. Histologically, CDC is defined as a subtype of renal cell carcinomas, but in some cases, it is difficult to differentiate from urothelial carcinomas (UC). Therefore the aim of this study was to determine genetic alterations of CDC in comparison to that of urothelial carcinomas of the upper urinary tract (UUT-UC) to clarify the histological origin of this rare tumor entity. Twenty-nine CDC samples were obtained from seven different German centers and compared with twenty-six urothelial carcinomas of the upper urinary tract. Comparative genomic hybridization (CGH) was used to investigate the genetic composition of patients’ tumors and allowed the detection of losses and gains of DNA copy numbers throughout the entire genome. The clinical data were correlated with CGH results. CGH analysis of CDC revealed DNA aberrations in many chromosomes. DNA losses were more frequently observed than gains, while high-level amplifications were not detected. The mean frequency of CDC chromosomal aberrations (4.9/case) was slightly lower than that in UUT-UC (5.4/case). Recurrent CDC DNA losses occurred at 8p (n=9/29), 16p (9/29), 1p (n=7/29) and 9p (n=7/29), and gains occurred in 13q (n=9/29). In contrast to CDC, the most frequently detected UUT-UC DNA aberration was a loss at 9q (n=13/26). DNA losses at 9q, 13q and 8q as well as gains at 8p showed significant variations in UUT-UC compared to CDC. There was no correlation between the patients’ clinical course and the presence or absence of these recurrent genetic alterations. CDCs are characterized by a different genetic pattern compared to UUT-UC. Regarding the published data on renal cell carcinoma, we conclude that CDC appears to be a unique entity among kidney carcinomas.
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spelling pubmed-38055922013-10-28 Collecting Duct Carcinomas Represent a Unique Tumor Entity Based on Genetic Alterations Becker, Frank Junker, Kerstin Parr, Martin Hartmann, Arndt Füssel, Susanne Toma, Marieta Grobholz, Rainer Pflugmann, Thomas Wullich, Bernd Strauss, Arne Behnes, Carl Ludwig Otto, Wolfgang Stöckle, Michael Jung, Volker PLoS One Research Article Collecting duct carcinoma (CDC) is a rare renal neoplasm that is associated with poor prognosis due to its highly aggressive course and limited response to immuno- or chemotherapy. Histologically, CDC is defined as a subtype of renal cell carcinomas, but in some cases, it is difficult to differentiate from urothelial carcinomas (UC). Therefore the aim of this study was to determine genetic alterations of CDC in comparison to that of urothelial carcinomas of the upper urinary tract (UUT-UC) to clarify the histological origin of this rare tumor entity. Twenty-nine CDC samples were obtained from seven different German centers and compared with twenty-six urothelial carcinomas of the upper urinary tract. Comparative genomic hybridization (CGH) was used to investigate the genetic composition of patients’ tumors and allowed the detection of losses and gains of DNA copy numbers throughout the entire genome. The clinical data were correlated with CGH results. CGH analysis of CDC revealed DNA aberrations in many chromosomes. DNA losses were more frequently observed than gains, while high-level amplifications were not detected. The mean frequency of CDC chromosomal aberrations (4.9/case) was slightly lower than that in UUT-UC (5.4/case). Recurrent CDC DNA losses occurred at 8p (n=9/29), 16p (9/29), 1p (n=7/29) and 9p (n=7/29), and gains occurred in 13q (n=9/29). In contrast to CDC, the most frequently detected UUT-UC DNA aberration was a loss at 9q (n=13/26). DNA losses at 9q, 13q and 8q as well as gains at 8p showed significant variations in UUT-UC compared to CDC. There was no correlation between the patients’ clinical course and the presence or absence of these recurrent genetic alterations. CDCs are characterized by a different genetic pattern compared to UUT-UC. Regarding the published data on renal cell carcinoma, we conclude that CDC appears to be a unique entity among kidney carcinomas. Public Library of Science 2013-10-22 /pmc/articles/PMC3805592/ /pubmed/24167600 http://dx.doi.org/10.1371/journal.pone.0078137 Text en © 2013 Becker et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Becker, Frank
Junker, Kerstin
Parr, Martin
Hartmann, Arndt
Füssel, Susanne
Toma, Marieta
Grobholz, Rainer
Pflugmann, Thomas
Wullich, Bernd
Strauss, Arne
Behnes, Carl Ludwig
Otto, Wolfgang
Stöckle, Michael
Jung, Volker
Collecting Duct Carcinomas Represent a Unique Tumor Entity Based on Genetic Alterations
title Collecting Duct Carcinomas Represent a Unique Tumor Entity Based on Genetic Alterations
title_full Collecting Duct Carcinomas Represent a Unique Tumor Entity Based on Genetic Alterations
title_fullStr Collecting Duct Carcinomas Represent a Unique Tumor Entity Based on Genetic Alterations
title_full_unstemmed Collecting Duct Carcinomas Represent a Unique Tumor Entity Based on Genetic Alterations
title_short Collecting Duct Carcinomas Represent a Unique Tumor Entity Based on Genetic Alterations
title_sort collecting duct carcinomas represent a unique tumor entity based on genetic alterations
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3805592/
https://www.ncbi.nlm.nih.gov/pubmed/24167600
http://dx.doi.org/10.1371/journal.pone.0078137
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