Frequency of BCR-ABL1 splice variants in Bosnian patients with chronic myeloid leukemia
Objectives: To calculate the frequency of BCR-ABL1 splice variants (e14a2, e13a2 and e1a2) in a group of Bosnian patients with chronic myeloid leukemia (CML) and compare it with the data reported in other populations. Comparisons between cytogenetic and therapy outcomes in patients with BCR-ABL1 e13a2 and e14a2 transcripts was also aim of this study. Methods: Forty six (46) CML patients, hospitalized at the University Clinical Center Tuzla, were subjected to cytogenetic and RTPCR analysis. Results: Out of 46 patients, 33 (72%) patients expressed e14a2, followed by e13a2 seen in 10 (22%) patients. Two patients (4%) displayed both e14a2 and e1a2 forms of BCR-ABL1. One patient(2%) showed e1a2 transcript of BCR-ABL1. In a subgroup of 19 CML patients, treated with Imatinib, patients with e13a2 transcript had higher complete cytogenetic response (CCgR) compared to those with e14a2 transcript. Conclusion: The frequency of BCR-ABL1 e13a2 and e14a2 molecular isoform in patients with CML included in our research is in concordance with other researches. Continuation of the study with a larger number of patients is required to confirm these preliminary observations. Key words: BCR-ABL1 transcripts, CML, cytogenetic response, Philadelphia chromosome.