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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Copy Number Profiling of Brazilian Astrocytomas

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Autor(es):
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Bidinotto, Lucas Tadeu [1, 2] ; Torrieri, Raul [1] ; Mackay, Alan [3, 4] ; Almeida, Gisele Caravina [5] ; Viana-Pereira, Marta [6, 7] ; Cruvinel-Carloni, Adriana [1] ; Spina, Maria Luisa [1, 2] ; Campanella, Nathalia Cristina [1] ; de Menezes, Weder Pereira [1] ; Clara, Carlos Afonso [8] ; Becker, Aline Paixao [1] ; Jones, Chris [3, 4] ; Reis, Rui Manuel [1, 6, 7]
Número total de Autores: 13
Afiliação do(s) autor(es):
[1] Barretos Canc Hosp, Mol Oncol Res Ctr, Rua Antenor Duarte Villela 1331, BR-14784400 Sao Paulo - Brazil
[2] Dr Paulo Prata FACISB, Barretos Sch Hlth Sci, BR-14785002 Sao Paulo - Brazil
[3] Inst Canc Res, Div Mol Pathol, London SM2 5NG - England
[4] Inst Canc Res, Div Canc Therapeut, London SM2 5NG - England
[5] Barretos Canc Hosp, Dept Pathol, BR-14784400 Sao Paulo - Brazil
[6] Univ Minho, Sch Hlth Sci, Life & Hlth Sci Res Inst ICVS, P-4704553 Braga - Portugal
[7] 3Bs PT Govt Associate Lab, P-4704553 Braga - Portugal
[8] Barretos Canc Hosp, Dept Neurosurg, BR-14784400 Sao Paulo - Brazil
Número total de Afiliações: 8
Tipo de documento: Artigo Científico
Fonte: G3-GENES, GENOMES, GENETICS; v. 6, n. 7, p. 1867-1878, JUL 1 2016.
Citações Web of Science: 2
Resumo

Copy number alterations (CNA) are one of the driving mechanisms of glioma tumorigenesis, and are currently used as important biomarkers in the routine setting. Therefore, we performed CNA profiling of 65 astrocytomas of distinct malignant grades (WHO grade I-IV) of Brazilian origin, using array-CGH and microsatellite instability analysis (MSI), and investigated their correlation with TERT and IDH1 mutational status and clinico-pathological features. Furthermore, in silico analysis using the Oncomine database was performed to validate our findings and extend the findings to gene expression level. We found that the number of genomic alterations increases in accordance with glioma grade. In glioblastomas (GBM), the most common alterations were gene amplifications (PDGFRA, KIT, KDR, EGFR, and MET) and deletions (CDKN2A and PTEN). Log-rank analysis correlated EGFR amplification and/or chr7 gain with better survival of the patients. MSI was observed in 11% of GBMs. A total of 69% of GBMs presented TERT mutation, whereas IDH1 mutation was most frequent in diffuse (85.7%) and anaplastic (100%) astrocytomas. The combination of 1p19q deletion and TERT and IDH1 mutational status separated tumor groups that showed distinct age of diagnosis and outcome. In silico validation pointed to less explored genes that may be worthy of future investigation, such as CDK2, DMRTA1, and MTAP. Herein, using an extensive integrated analysis, we indicated potentially important genes, not extensively studied in gliomas, that could be further explored to assess their biological and clinical impact in astrocytomas. (AU)

Processo FAPESP: 12/19590-0 - Perfil mutacional de linhagens primárias de glioblastomas
Beneficiário:Rui Manuel Vieira Reis
Linha de fomento: Auxílio à Pesquisa - Regular
Processo FAPESP: 11/08523-7 - Perfil de alterações cromossômicas em tumores cerebrais (meduloblastomas e gliomas): impacto na identificação de novas vias tumorigênicas
Beneficiário:Lucas Tadeu Bidinotto
Linha de fomento: Bolsas no Brasil - Pós-Doutorado
Processo FAPESP: 13/15515-6 - Perfil mutacional de linhagens primárias de glioblastomas
Beneficiário:Weder Pereira de Menezes
Linha de fomento: Bolsas no Brasil - Programa Capacitação - Treinamento Técnico
Processo FAPESP: 12/08287-4 - Perfil de alterações cromossômicas em gliomas
Beneficiário:Lucas Tadeu Bidinotto
Linha de fomento: Bolsas no Exterior - Estágio de Pesquisa - Pós-Doutorado
Processo FAPESP: 13/25787-3 - Estudo de biomarcadores de prognóstico e resposta terapêutica em tumores estromais gastrointestinais (GISTs)
Beneficiário:Nathália Cristina Campanella
Linha de fomento: Bolsas no Brasil - Doutorado Direto