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

Jaramillo Jaramillo, Carolina; Pérez Mejía, Juliana; Rave Zapata, Sara María; Villa Palacio, Maria Isabel; Velasco Cardona, Diana Carolina

Volume 17, Issue 3 (September-2025 2025) Iranian Journal of Blood and Cancer 2025, 17(3): 5-13 | Back to browse issues page

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Jaramillo Jaramillo C, Pérez Mejía J, Rave Zapata S M, Villa Palacio M I, Velasco Cardona D C. Detection of T315I Mutation in Ph+ Leukemias: Clinical Insights from One Case Report. Iranian Journal of Blood and Cancer 2025; 17 (3) :5-13
URL: http://ijbc.ir/article-1-1770-en.html

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

Carolina Jaramillo Jaramillo¹

, Juliana Pérez Mejía²

, Sara María Rave Zapata³

, Maria Isabel Villa Palacio⁴

, Diana Carolina Velasco Cardona ^*⁵

1- School of Bacteriology, Colegio Mayor de Antioquia, Colombia.
2- Health Sciences, Colegio Mayor de Antioquia, Colombia.
3- Antioquia, Colegio Mayor de Antioquia, Colombia.
4- Faculty of Health Sciences, Colegio Mayor de Antioquia, Colombia.
5- Health Sciences, Colegio Mayor de Antioquia, Colombia. , dcvelasco@est.colmayor.edu.co

Abstract: (46 Views)

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.

Keywords: Chronic myeloproliferative neoplasm, Philadelphia chromosome, BCR/ABL.

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: Original Article | Subject: Adults Hematology & Oncology
Received: 2025/07/14 | Accepted: 2025/09/11 | Published: 2025/09/30

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