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

AI Article Synopsis

  • - Wilms tumor (WT) is the most common kidney cancer in children, and its causes are not fully understood; studying genomic copy number variants (CNV) in tumors can aid in understanding and treating the disease.
  • - In a study of 14 patients with sporadic WT, 22% of chromosome abnormalities discovered were novel, including segmental gains and losses that had not been previously reported.
  • - This research marks the first examination of CNV in both blood and tumor samples from WT patients, identifying candidate genes that might play a role in the tumor's development and progression.

Article 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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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552764PMC
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0136812PLOS

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