Detection and correlation of single and concomitant TP53, PTEN, and CDKN2A alterations in gliomas
Pessôa, Igor Andrade
Amorim, Carolina Koury
Ferreira, Wallax Augusto Silva
Brito, José Reginaldo
Oliveira, Edivaldo Herculano Correa de
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.
xmlui.dri2xhtml.METS-1.0.item-citationPESSÔA, 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.
xmlui.dri2xhtml.METS-1.0.item-decsPrimaryGlioma / genética
Sistema Nervoso Central
Genes p53 / genética
Síndrome do Hamartoma Múltiplo / genética
Polimorfismo Conformacional de Fita Simples / genética
Hibridização in Situ Fluorescente / genética