Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

dc.creatorCardoso, Leila Cabral de Almeida
dc.creatorRodriguez-Laguna, Lara
dc.creatorCrespo, Maria del Carmen
dc.creatorVallespin, Elena
dc.creatorPalomares-Bralo, Maria
dc.creatorMartin-Arenas, Rubén
dc.creatorRueda-Arenas, Immaculada
dc.creatorFaria, Paulo Antonio Silvestre de
dc.creatorGT-CSGP Working Group
dc.creatorGarcía-Miguel, Purificación
dc.creatorLapunzina, Pablo
dc.creatorVargas, Fernando Regla
dc.creatorSeuanez, Hector N.
dc.creatorMartínez-Glez, Victor
dc.date2016-03-01T17:11:58Z
dc.date2016-03-01T17:11:58Z
dc.date2015
dc.date.accessioned2023-09-26T22:32:02Z
dc.date.available2023-09-26T22:32:02Z
dc.identifierCARDOSO, Leila Cabral de Almeida; et al. Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor. Plos One, v.10, n.8, 14p, Aug. 2015.
dc.identifier1932-6203
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/12927
dc.identifier10.1371/journal.pone.0136812
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8880430
dc.descriptionWilms tumor (WT), the most common cancer of the kidney in infants and children, has a complex etiology that is still poorly understood. Identification of genomic copy number variants (CNV) in tumor genomes provides a better understanding of cancer development which may be useful for diagnosis and therapeutic targets. In paired blood and tumor DNA samples from 14 patients with sporadic WT, analyzed by aCGH, 22% of chromosome abnormalities were novel. All constitutional alterations identified in blood were segmental (in 28.6% of patients) and were also present in the paired tumor samples. Two segmental gains (2p21 and 20q13.3) and one loss (19q13.31) present in blood had not been previously described in WT. We also describe, for the first time, a small, constitutive partial gain of 3p22.1 comprising 2 exons of CTNNB1, a gene associated to WT. Among somatic alterations, novel structural chromosomal abnormalities were found, like gain of 19p13.3 and 20p12.3, and losses of 2p16.1-p15, 4q32.5-q35.1, 4q35.2-q28.1 and 19p13.3. Candidate genes included in these regions might be constitutively (SIX3, SALL4) or somatically (NEK1, PIAS4, BMP2) operational in the development and progression of WT. To our knowledge this is the first report of CNV in paired blood and tumor samples in sporadic WT.
dc.formatapplication/pdf
dc.languageeng
dc.publisherPublic Library of Science
dc.rightsopen access
dc.subjectWilms Tumor
dc.subjectChildren
dc.subjectKidney
dc.subjectCancer
dc.subjectTumor de Wilms
dc.subjectCâncer
dc.subjectCrianças
dc.subjectRins
dc.titleArray CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor
dc.typeArticle


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