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From Human Cytogenetics to Human Chromosomics
Open AccessArticle

Detection and Correlation of Single and Concomitant TP53, PTEN, and CDKN2A Alterations in Gliomas

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Programa de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Pará, Belém, PA 66075-110, Brazil
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Programa de Pós-graduação em Neurociências e Biologia Celular, Universidade Federal do Pará, Belém, PA 66075-110, Brazil
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Laboratório de Cultura de Tecidos e Citogenética, SAMAM, Instituto Evandro Chagas, Ananindeua, PA 67030-000, Brazil
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Programa de Pós-graduação em Oncologia e Ciências Médicas, Universidade Federal do Pará, Belém, PA 66075-110, Brazil
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Institute of Human Genetics, Jena University Hospital, Am Klinikum 1, 07747 Jena, Germany
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Zyto Vision GmbH, 27572 Bremerhaven, Germany
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Faculdade de Ciências Naturais, ICEN, Universidade Federal do Pará, Belém, PA 66075-110, Brazil
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(11), 2658; https://doi.org/10.3390/ijms20112658
Received: 2 April 2019 / Revised: 28 April 2019 / Accepted: 30 April 2019 / Published: 30 May 2019
(This article belongs to the Special Issue Chromosome and Karyotype Variation)
Gliomas are the most frequent primary tumors of central nervous system and represent a heterogeneous group of tumors that originates from the glial cells. TP53, PTEN, and CDKN2A are important tumor suppressor genes that encode proteins involved in sustaining cellular homeostasis by different signaling pathways. Though genetic alterations in these genes play a significant role in tumorigenesis, few studies are available regarding the incidence and relation of concomitant TP53, PTEN, and CDKN2A alterations in gliomas. The purpose of this study was to evaluate the occurrence of mutation and deletion in these genes, through single-strand conformational polymorphism, array-comparative genomic hybridization, and fluorescence in situ hybridization techniques, in 69 gliomas samples. Molecular results demonstrated a significant higher prevalence of TP53, PTEN, and CDKN2A alterations in astrocytoma than other tumor subtypes, and heterozygous deletion was the most frequent event. In addition, a significant association was observed between TP53 and CDKN2A alterations (p = 0.0424), which tend to coexist in low grade astrocytomas (5/46 cases (10.9%)), suggesting that they are early events in development of these tumors, and PTEN and CDKN2A deletions (p = 0.0022), which occurred concomitantly in 9/50 (18%) patients, with CDKN2A changes preceding PTEN deletions, present preferably in high-grade gliomas. View Full-Text
Keywords: glioma; TP53; PTEN; CDKN2A; co-alterations; single-strand conformational polymorphism; array-comparative genomic; hybridization and fluorescence in situ hybridization glioma; TP53; PTEN; CDKN2A; co-alterations; single-strand conformational polymorphism; array-comparative genomic; hybridization and fluorescence in situ hybridization
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MDPI and ACS Style

Pessôa, I.A.; Amorim, C.K.; Ferreira, W.A.S.; Sagica, F.; Brito, J.R.; Othman, M.; Meyer, B.; Liehr, T.; de Oliveira, E.H.C. Detection and Correlation of Single and Concomitant TP53, PTEN, and CDKN2A Alterations in Gliomas. Int. J. Mol. Sci. 2019, 20, 2658.

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