Estudio de mutaciones en los genes IDH1 e IDH2 en una muestra de gliomas de población colombiana

Abstract

Introduction: Gliomas are the most common primary tumors of the central nervous system and, according to their malignancy, they are graded from I to IV. Recent studies have found that there is an association between gliomas and mutations in exon 4 of genes that codify for isocitrate dehydrogenases 1 and 2 (IDH1: codon 132; IDH2: codon 172). Objective: To establish the frequency of mutations in IDH1 and IDH2 in a sample of gliomas from Colombian population. Materials and methods: DNA was extracted from tumor tissue. The exon 4 of IDH1 and IDH2 was amplified by PCR using specific primers and subsequently sequenced. Mutations were determined using the 4Peaks MAFFT programs. Results: We found mutations in the IDH1 gene in 34% of the glioma samples, with a predominance of the nonsynonymous mutation R132H. Mutations in the IDH2 gene were found in 7.5% of cases, with a predominance of the nonsynonymous R172K and R172W mutations. Conclusions: The frequency of mutations in the IDH1 and IDH2 genes in the sample was similar to that reported in other studies. The analysis of these mutations may be important to establish prognostic factors and for the development of future therapeutic targets in gliomas.

Detección de la mutación de la enzima isocitrato deshidrogenasa en gliomas difusos grados II, III y IV

“…Una menor proporción de tumores involucra mutaciones en el gen IDH2 (R172) [8,21]. En este estudio, se identificó una prevalencia de la mutación de IDH2 en el 9% de los pacientes; frecuencia que se aproxima a la reportada a nivel mundial y regional, las cuales varían entre el 2% y 7% [8,15,21].…”

“…En Colombia, en el año 2016, un estudio realizado en la ciudad de Bogotá por el grupo de Patología Molecular de la Universidad Nacional de Colombia, evaluó 26 pacientes con gliomas difusos, encontrando mutaciones en IDH1 o IDH2 en el 57,1% de todos los pacientes evaluados, al igual que en el 100% de los oligodendrogliomas, pero solo en el 36,1% de los astrocitomas [15]. En Antioquia, el estado de la IDH de los gliomas no ha sido estudiado, ya que su evaluación es poco asequible en el medio, lo que limita las posibilidades de llegar a un diagnóstico completo.…”

Determination of TMPRSS2‐ERG, SPOP, FOXA1, and IDH1 prostate cancer molecular subtypes in Colombian patients and their possible implications for prognosis

“…A total of 2–4 µL of DNA was used. Primer sequences and PCR conditions are shown in Table 1 (Blattner et al, 2014; Hernández‐Llodrà et al, 2019; Ricaurte et al, 2018).…”

Zika Virus: A Neurotropic Warrior against High-Grade Gliomas—Unveiling Its Potential for Oncolytic Virotherapy

“…Loss-of-function mutations in IDH1 (cytoplasmic and peroxisomal) and IDH2 (mitochondrial) have been identified in 50 to 80% of low-grade gliomas, and at least 75% of GBM-II cases. These mutations are associated with a more favorable prognosis, increased progression-free survival, and improved response to chemotherapy [ 54 ]. Additionally, variations in the copy number or amplification of gene expression involved in cell-cycle regulatory processes have emerged as prognostic factors or predictors of response to specific GBM treatments.…”