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Genomic profiling by whole‐genome single nucleotide polymorphism arrays in Wilms tumor and association with relapse
Author(s) -
Perotti Daniela,
Spreafico Filippo,
Torri Federica,
Gamba Beatrice,
D'Adamo Pio,
Pizzamiglio Sara,
Terenziani Monica,
Catania Serena,
Collini Paola,
Nantron Marilina,
Pession Andrea,
Bianchi Maurizio,
Indolfi Paolo,
D'Angelo Paolo,
FossatiBellani Franca,
Verderio Paolo,
Macciardi Fabio,
Radice Paolo
Publication year - 2012
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.21951
Subject(s) - single nucleotide polymorphism , genotyping , snp , allele , genetics , biology , genotype , snp array , wilms' tumor , snp genotyping , chromosome , candidate gene , oncology , medicine , gene
Abstract Despite the excellent survival rate of Wilms tumor (WT) patients, only approximately one‐half of children who suffer tumor recurrence reach second durable remission. This underlines the need for novel markers to optimize initial treatment. We investigated 77 tumors using Illumina 370CNV‐QUAD genotyping BeadChip arrays and compared their genomic profiles to detect copy number (CN) abnormalities and allelic ratio anomalies associated with the following clinicopathological variables: relapse (yes vs. no), age at diagnosis (≤24 months vs. >24 months), and disease stage (low stage, I and II, vs. high stage, III and IV). We found that CN gains at chromosome region 1q21.1‐q31.3 were significantly associated with relapse. Additional genetic events, including allelic imbalances at chromosome arms 1p, 1q, 3p, 3q, and 14q were also found to occur at higher frequency in relapsing tumors. Interestingly, allelic imbalances at 1p and 14q also showed a borderline association with higher tumor stages. No genetic events were found to be associated with age at diagnosis. This is the first genome wide analysis with single nucleotide polymorphism (SNP) arrays specifically investigating the role of genetic anomalies in predicting WT relapse on cases prospectively enrolled in the same clinical trial. Our study, besides confirming the role of 1q gains, identified a number of additional candidate genetic markers, warranting further molecular investigations. © 2012 Wiley Periodicals, Inc.