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

Wilms 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 th...

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Bibliographic Details
Published in:PloS one 2015-08, Vol.10 (8), p.e0136812-e0136812
Main Authors: Cabral de Almeida Cardoso, Leila, Rodriguez-Laguna, Lara, Del Carmen Crespo, María, Vallespín, Elena, Palomares-Bralo, María, Martin-Arenas, Rubén, Rueda-Arenas, Inmaculada, Silvestre de Faria, Paulo Antonio, García-Miguel, Purificación, Lapunzina, Pablo, Regla Vargas, Fernando, Seuanez, Hector N, Martínez-Glez, Víctor
Format: Article
Language:English
Subjects:
Abnormalities
Analysis
Blood
Bone morphogenetic proteins
Cancer
Care and treatment
Child
Child, Preschool
Children
Chromosome 19
Chromosome aberrations
Chromosome Aberrations - statistics & numerical data
Chromosomes
Comparative Genomic Hybridization - methods
Copy number
Deoxyribonucleic acid
Development and progression
DNA
Etiology
Exons
Female
Gene Dosage
Genetic aspects
Genetic Predisposition to Disease
Genomes
Genomics
Health aspects
Humans
Infants
Kidney cancer
Kidney Neoplasms - blood
Kidney Neoplasms - genetics
Kidney Neoplasms - pathology
Kinases
Male
Nek1 protein
Nephroblastoma
Patients
Risk factors
Six3 gene
Therapeutic applications
Tumors
Wilms Tumor - blood
Wilms Tumor - genetics
Wilms Tumor - pathology
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Description
Summary:Wilms 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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0136812