Single nucleotide polymorphism in PTEN-Long gene: A risk factor in chronic myeloid leukemia.

摘要: Abstract The BCR-ABL1 oncogene is associated with chronic myeloid leukemia (CML) pathogenesis, but the molecular mechanisms that initiate leukemogenesis are still unclear. Cancer pathogenesis has been genetic alterations may lead to inactivation of tumor suppressor genes. Phosphatase and tensin homolog (PTEN) frequently deleted or inactivated in various tumors. A recently discovered variant PTEN, PTEN-Long (PTEN-L), results from an alternative translation initiation site located upstream canonic AUG generates a protein 576 amino acids instead expected 403 acids. 16 bp perfect palindromic motif centered on PTEN-L CUG513 start codon required for initiation. single nucleotide polymorphism (SNP) gene rs12573787 first exon respect CUG site. In this case-control study we evaluated association variants CML risk therapy response Argentine population. allele SNP was found be OR (95% CI) 1.71 (1.11–2.63) p = 0.016, which resulted consistent by multivariate analysis adjusted gender age. According previous evidence more frequent males, confined gender. Unexpectedly, also patients older than 45 years old. To our knowledge, time rs1257378 studied suggesting factor development but, no failure TKIs treatment found.