Detection and correlation of single and concomitant TP53, PTEN, and CDKN2A alterations in gliomas

Pess?a, Igor Andrade; Amorim, Carolina Koury; Ferreira, Wallax Augusto Silva; Sagica, Fernanda; Brito, Jos? Reginaldo; Othman, Moneeb; Meyer, Britta; Liehr, Thomas; Oliveira, Edivaldo Herculano Correa de

Artigo

Detection and correlation of single and concomitant TP53, PTEN, and CDKN2A alterations in gliomas

Abstract: 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 diff...

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Autor principal:	Pess?a, Igor Andrade
Outros Autores:	Amorim, Carolina Koury, Ferreira, Wallax Augusto Silva, Sagica, Fernanda, Brito, Jos? Reginaldo, Othman, Moneeb, Meyer, Britta, Liehr, Thomas, Oliveira, Edivaldo Herculano Correa de
Grau:	Artigo
Idioma:	eng
Publicado em:	MDPI 2019
Assuntos:	Glioma / gen?tica Sistema Nervoso Central Genes p53 / gen?tica S?ndrome do Hamartoma M?ltiplo / gen?tica Polimorfismo Conformacional de Fita Simples / gen?tica Hibridiza??o in Situ Fluorescente / gen?tica Hibridiza??o Gen?tica
Acesso em linha:	http://patua.iec.gov.br//handle/iec/3752

id	ir-iec-3752
recordtype	dspace
spelling	ir-iec-37522019-06-17T17:09:36Z Detection and correlation of single and concomitant TP53, PTEN, and CDKN2A alterations in gliomas Pess?a, Igor Andrade Amorim, Carolina Koury Ferreira, Wallax Augusto Silva Sagica, Fernanda Brito, Jos? Reginaldo Othman, Moneeb Meyer, Britta Liehr, Thomas Oliveira, Edivaldo Herculano Correa de Glioma / gen?tica Sistema Nervoso Central Genes p53 / gen?tica S?ndrome do Hamartoma M?ltiplo / gen?tica Polimorfismo Conformacional de Fita Simples / gen?tica Hibridiza??o in Situ Fluorescente / gen?tica Hibridiza??o Gen?tica Abstract: 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. This research was funded partially by Funda??o de Amparo ? Pesquisa do Estado do Par? (FAPESPA, Bel?m, PA) (ICAAF 075/2014). 2019-06-17T16:45:23Z 2019-06-17T16:45:23Z 2019 Artigo PESS?A, Igor Andrade et al. Detection and correlation of single and concomitant TP53, PTEN, and CDKN2A alterations in gliomas. International Journal of Molecular Sciences, v. 20, n. 11, e 2658, p. 1-20, May 2019. 1422-0067 http://patua.iec.gov.br//handle/iec/3752 10.3390/ijms20112658 eng Acesso Aberto application/pdf MDPI
institution	Instituto Evandro Chagas (IEC)
collection	PATUA
language	eng
topic	Glioma / gen?tica Sistema Nervoso Central Genes p53 / gen?tica S?ndrome do Hamartoma M?ltiplo / gen?tica Polimorfismo Conformacional de Fita Simples / gen?tica Hibridiza??o in Situ Fluorescente / gen?tica Hibridiza??o Gen?tica
spellingShingle	Glioma / gen?tica Sistema Nervoso Central Genes p53 / gen?tica S?ndrome do Hamartoma M?ltiplo / gen?tica Polimorfismo Conformacional de Fita Simples / gen?tica Hibridiza??o in Situ Fluorescente / gen?tica Hibridiza??o Gen?tica Pess?a, Igor Andrade Detection and correlation of single and concomitant TP53, PTEN, and CDKN2A alterations in gliomas
topic_facet	Glioma / gen?tica Sistema Nervoso Central Genes p53 / gen?tica S?ndrome do Hamartoma M?ltiplo / gen?tica Polimorfismo Conformacional de Fita Simples / gen?tica Hibridiza??o in Situ Fluorescente / gen?tica Hibridiza??o Gen?tica
description	Abstract: 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.
format	Artigo
author	Pess?a, Igor Andrade
author2	Amorim, Carolina Koury Ferreira, Wallax Augusto Silva Sagica, Fernanda Brito, Jos? Reginaldo Othman, Moneeb Meyer, Britta Liehr, Thomas Oliveira, Edivaldo Herculano Correa de
author2Str	Amorim, Carolina Koury Ferreira, Wallax Augusto Silva Sagica, Fernanda Brito, Jos? Reginaldo Othman, Moneeb Meyer, Britta Liehr, Thomas Oliveira, Edivaldo Herculano Correa de
title	Detection and correlation of single and concomitant TP53, PTEN, and CDKN2A alterations in gliomas
title_short	Detection and correlation of single and concomitant TP53, PTEN, and CDKN2A alterations in gliomas
title_full	Detection and correlation of single and concomitant TP53, PTEN, and CDKN2A alterations in gliomas
title_fullStr	Detection and correlation of single and concomitant TP53, PTEN, and CDKN2A alterations in gliomas
title_full_unstemmed	Detection and correlation of single and concomitant TP53, PTEN, and CDKN2A alterations in gliomas
title_sort	detection and correlation of single and concomitant tp53, pten, and cdkn2a alterations in gliomas
publisher	MDPI
publishDate	2019
url	http://patua.iec.gov.br//handle/iec/3752
_version_	1717584533315911680
score	11.755432

Detection and correlation of single and concomitant TP53, PTEN, and CDKN2A alterations in gliomas

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