Analysis of Two Mutations in the BCR-ABL Fusion Gene Relevant for Monitoring Chronic Myeloid Leukemia Patients

Abstract

Chronic myeloid leukemia (CML) is a clonal myeloproliferative neoplasm characterized by a structural chromosomal aberration. The BCR-ABL tyrosine kinase produced by the t(9;22)(q34;q11) translocation (also known as the Philadelphia chromosome - Ph+) is the initiating event in CML. In the present paper, we proposed a new and efficient method based on reverse transcription and nested PCR amplification for highlighting E255K/V and T315I mutations in the BCR-ABL fusion gene. We included 20 patients (13 males and 7 females) with CML (mean age of 55 ±17 years) based on the presence of Ph+ and data regarding the molecular response to Imatinib therapy. The obtained results indicate the presence of E255K/V and T315I mutations in two patients from this research. Furthermore, it was observed that patients with CML who had acquired mutations did not respond to Imatinib therapy and required personalized therapy. We concluded that this protocol is easy to implement and relatively rapid and inexpensive compared with other techniques to identify the mutations.