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Krepischi ACV, Maschietto M, Ferreira EN, et al. Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors. Mol Cytogenet. 2016;9:20doi: 10.1186/s13039-016-0227-y.
Krepischi, A. C. V., Maschietto, M., Ferreira, E. N., Silva, A. G., Costa, S. S., da Cunha, I. W., Barros, B. D. F., Grundy, P. E., Rosenberg, C., & Carraro, D. M. (2016). Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors. Molecular cytogenetics, 920. https://doi.org/10.1186/s13039-016-0227-y
Krepischi, A C V, et al. "Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors." Molecular cytogenetics vol. 9 (2016): 20. doi: https://doi.org/10.1186/s13039-016-0227-y
Krepischi ACV, Maschietto M, Ferreira EN, Silva AG, Costa SS, da Cunha IW, Barros BDF, Grundy PE, Rosenberg C, Carraro DM. Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors. Mol Cytogenet. 2016 Feb 24;9:20. doi: 10.1186/s13039-016-0227-y. eCollection 2016. PMID: 26913079; PMCID: PMC4765068.
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Mol Cytogenet. 2016 Feb 24;9:20. doi: 10.1186/s13039-016-0227-y. eCollection 2016.

Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors.

Molecular cytogenetics

A C V Krepischi, M Maschietto, E N Ferreira, A G Silva, S S Costa, I W da Cunha, B D F Barros, P E Grundy, C Rosenberg, D M Carraro

Affiliations

  1. International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
  2. Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
  3. Brazilian Biosciences National Laboratory, National Center for Research in Energy and Materials, Campinas, São Paulo, Brazil.
  4. Department of Surgical and Investigative Pathology, AC Camargo Cancer Center, São Paulo, Brazil.
  5. Alberta Health Services, Cancer Control Alberta, Alberta, Canada.

PMID: 26913079 PMCID: PMC4765068 DOI: 10.1186/s13039-016-0227-y

Abstract

BACKGROUND: Wilms tumor (WT) has a not completely elucidated pathogenesis. DNA copy number alterations (CNAs) are common in cancer, and often define key pathogenic events. The aim of this work was to investigate CNAs in order to disclose new candidate genes for Wilms tumorigenesis.

RESULTS: Array-CGH of 50 primary WTs without pre-chemotherapy revealed a few recurrent CNAs not previously reported, such as 7q and 20q gains, and 7p loss. Genomic amplifications were exclusively detected in 3 cases of WTs that later relapsed, which also exhibited an increased frequency of gains affecting a 16.2 Mb 1q21.1-q23.2 region, losses at 11p, 11q distal, and 16q, and WT1 deletions. Conversely, aneuploidies of chromosomes 13 and 19 were found only in WTs without further relapse. The 1q21.1-q23.2 gain associated with WT relapse harbours genes such as CHD1L, CRABP2, GJA8, MEX3A and MLLT11 that were found to be over-expressed in WTs. In addition, down-regulation of genes encompassed by focal deletions highlighted new potential tumor suppressors such as CNKSR1, MAN1C1, PAQR7 (1p36), TWIST1, SOSTDC1 (7p14.1-p12.2), BBOX and FIBIN (11p13), and PLCG2 (16q).

CONCLUSION: This study confirmed the presence of CNAs previously related to WT and characterized new CNAs found only in few cases. The later were found in higher frequency in relapsed cases, suggesting that they could be associated with WT progression.

Keywords: 1q21.1-q23.2 gain; Array-CGH; CNA; Copy number alteration; Relapse; Wilms tumor

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