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Cited by 56Renal and related cancersGenomic variations and chromosomal abnormalitiesChromatin Remodeling and Cancer

Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors

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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. +2 more·2016·Molecular Cytogenetics
DOI 10.1186/s13039-016-0227-yPMC PMC4765068
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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.

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  • PLCG2 was implicated as a potential tumor suppressor gene in Wilms' tumor with a focal deletion of chromosome 16q22.1q24.3, which resulted in a copy number alteration and downregulation of PLCG2.

    “In addition, PLCG2 was implicated as a potential tumor suppressor gene in Wilms' tumor with a focal deletion of chromosome 16q22.1q24.3, which resulted in a copy number alteration and downregulation of PLCG2 (145).”

    From The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration (2021) · cites this paper as [145]

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Authors
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.
Affiliations
  • Universidade de São Paulo (BR)
  • AC Camargo Hospital (BR)
  • Alberta Health Services (CA)
Corresponding author
  • Krepischi, A. C. V.
  • Carraro, D. M.
ORCID
Venue
Molecular Cytogenetics
Publisher
Springer Science and Business Media LLC
Published
2016-02-24
Volume
9
Issue
1
Pages
20-20
ISSN
1755-8166 (ISSN-L)
DOI
10.1186/s13039-016-0227-y
PMC
PMC4765068
OpenAlex
W2275758287
Cited by
56
References
1
Citations by year
2026: 2 · 2025: 2 · 2024: 5 · 2023: 4 · 2022: 3 · 2021: 13 · 2020: 15 · 2019: 5 · 2018: 4 · 2017: 3
FWCI
2.08
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • Molecular Cytogenetics (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • Conselho Nacional de Desenvolvimento Científico e Tecnológico (400140/2014-4)
  • Fundação de Amparo à Pesquisa do Estado de São Paulo (BR) (2010/00223-1)
  • Fundação de Amparo à Pesquisa do Estado de São Paulo (2008/57887-9)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Renal and related cancers
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
Keywords
Wilms tumor, DNA copy number alterations, oncogenes, tumor suppressor, tumor recurrence, 7q gain, 20q gain, 16q loss, candidate genes, tumor progression

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