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ARRAY CGH ANALYSIS OF PAIRED BLOOD AND TUMOR SAMPLES FROM PATIENTS WITH SPORADIC WILMS TUMOR
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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.
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