Detection of T315I Mutation in Ph+ Leukemias: Clinical Insights from One Case Report

The reciprocal translocation between chromosomes 9 and 22, known as the Philadelphia chromosome, results in the formation of the BCR/ABL fusion gene.This genetic aberration leads to dysregulation of intracellular kinase activity.The detection of the Philadelphia chromosome is a critical component of the diagnostic evaluation of myeloproliferative neoplasms and acute lymphoid leukemia.In treatments involving tyrosine kinase inhibitors, at least 70 genetic variants have been documented as factors that induce resistance to drugs.This includes the T315I mutation, which has been identified as the most prevalent in multiple countries and is of significant clinical significance.This mutation is detected in patients who have experienced therapeutic failure, thereby significantly restricting the available treatment options.In Colombia, the prevalence of this mutation and the dynamics of its appearance are not yet fully understood.Furthermore, there is a paucity of information regarding the management and prognosis of patients who express the mutation.In this study, the genomic DNA of 26 patients with Philadelphia chromosome was analyzed using the real-time molecular technique PCR.The objective was to identify the T315I genetic variant, which was positive in two of the patients diagnosed with CML.We present a case of a 39-year-old female patient diagnosed with Ph+ CML who exhibited resistance to treatment and detection of this mutation.