title: Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor.
abstract: 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.
authors: Genetics Division, Instituto Nacional de Câncer, Rio de Janeiro, Brazil.
authors: Leila
authors: L
authors: Cabral de Almeida Cardoso
authors: Section of Functional and Structural Genomics, Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
authors: Lara
authors: L
authors: Rodriguez-Laguna
authors: Section of Functional and Structural Genomics, Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
authors: María
authors: M
authors: Del Carmen Crespo
authors: Section of Functional and Structural Genomics, Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
authors: Elena
authors: E
authors: Vallespín
authors: Section of Functional and Structural Genomics, Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
authors: María
authors: M
authors: Palomares-Bralo
authors: Section of Functional and Structural Genomics, Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
authors: Rubén
authors: R
authors: Martin-Arenas
authors: Section of Functional and Structural Genomics, Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
authors: Inmaculada
authors: I
authors: Rueda-Arenas
authors: Pathology Division, Instituto Nacional de Câncer, Rio de Janeiro, Brazil.
authors: Paulo Antonio
authors: PA
authors: Silvestre de Faria
authors: Service of Pediatric Oncohematology-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
authors: Purificación
authors: P
authors: García-Miguel
authors: CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain; Section of Clinical Genetics, Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
authors: Pablo
authors: P
authors: Lapunzina
authors: Genetics Department, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil; Birth Defects Epidemiology Laboratory, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.
authors: Fernando
authors: F
authors: Regla Vargas
authors: Genetics Division, Instituto Nacional de Câncer, Rio de Janeiro, Brazil; Genetics Department, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
authors: Hector N
authors: HN
authors: Seuanez
authors: Section of Functional and Structural Genomics, Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
authors: Víctor
authors: V
authors: Martínez-Glez
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000706:statistics & numerical data; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007680:Kidney Neoplasms / Q000097:blood / Q000235:genetics* / Q000473:pathology; D008297:Male; D009396:Wilms Tumor / Q000097:blood / Q000235:genetics* / Q000473:pathology