Identification of ALK gene alterations in urothelial carcinoma

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• dc.contributor.author Bellmunt Molins, Joaquim, 1959-
• dc.contributor.author Selvarajah, Shamini
• dc.contributor.author Rodig, Scott
• dc.contributor.author Salido Galeote, Marta
• dc.contributor.author Muga, Silvia de
• dc.contributor.author Costa, Irmgard
• dc.contributor.author Bellosillo Paricio, Beatriz
• dc.contributor.author Werner, Lillian
• dc.contributor.author Mullane, Stephanie A.
• dc.contributor.author Fay, André P.
• dc.contributor.author O’Brien, Robert
• dc.contributor.author Barretina, Jordi
• dc.contributor.author Minoche, André E.
• dc.contributor.author Signoretti, Sabina
• dc.contributor.author Montagut Viladot, Clara
• dc.contributor.author Himmelbauer, Heinz
• dc.contributor.author Berman, David M.
• dc.contributor.author Kantoff, Philip
• dc.contributor.author Choueiri, Toni K.
• dc.contributor.author Rosenberg, Jonathan E.
• dc.date.accessioned 2023-06-27T06:22:17Z
• dc.date.available 2023-06-27T06:22:17Z
• dc.date.issued 2014
• dc.description Includes supplementary materials for the online appendix.
• dc.description Includes supplementary materials for the online appendix.
• dc.description.abstract Anaplastic lymphoma kinase (ALK) genomic alterations have emerged as a potent predictor of benefit from treatment with ALK inhibitors in several cancers. Currently, there is no information about ALK gene alterations in urothelial carcinoma (UC) and its correlation with clinical or pathologic features and outcome. Samples from patients with advanced UC and correlative clinical data were collected. Genomic imbalances were investigated by array comparative genomic hybridization (aCGH). ALK gene status was evaluated by fluorescence in situ hybridization (FISH). ALK expression was assessed by immunohistochemistry (IHC) and high-throughput mutation analysis with Oncomap 3 platform. Next generation sequencing was performed using Illumina Genome Analyzer IIx, and Illumina HiSeq 2000 in the FISH positive case. 70 of 96 patients had tissue available for all the tests performed. Arm level copy number gains at chromosome 2 were identified in 17 (24%) patients. Minor copy number alterations (CNAs) in the proximity of ALK locus were found in 3 patients by aCGH. By FISH analysis, one of these samples had a deletion of the 5′ALK. Whole genome next generation sequencing was inconclusive to confirm the deletion at the level of the ALK gene at the coverage level used. We did not observe an association between ALK CNA and overall survival, ECOG PS, or development of visceral disease. ALK genomic alterations are rare and probably without prognostic implications in UC. The potential for testing ALK inhibitors in UC merits further investigation but might be restricted to the identification of an enriched population.
• dc.format.mimetype application/pdf
• dc.identifier.citation Bellmunt J, Selvarajah S, Rodig S, Salido M, de Muga S, Costa I, et al. Identification of ALK gene alterations in urothelial carcinoma. PLoS ONE. 2014 Aug 1;9(8):e103325. DOI: 10.1371/journal.pone.0103325
• dc.identifier.doi http://dx.doi.org/10.1371/journal.pone.0103325
• dc.identifier.issn 1932-6203
• dc.identifier.uri http://hdl.handle.net/10230/57365
• dc.language.iso eng
• dc.publisher Public Library of Science (PLoS)
• dc.relation.ispartof PLoS ONE. 2014 Aug 1;9(8):e103325
• dc.relation.isreferencedby https://doi.org/10.1371/journal.pone.0103325.s001
• dc.rights © 2014 Bellmunt et al. 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 credited.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.other Càncer -- Tractament
• dc.subject.other Còlon -- Càncer
• dc.subject.other Tumors
• dc.title Identification of ALK gene alterations in urothelial carcinoma
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion