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.

The myeloproliferative diseases (MPDs) or myelo-proliferative neoplasms (MPNs) are a group of diseases of the bone marrow in which excess cells are produced. Chronic idiopathic myelofibrosis (CIMF) is a stem cell defect characterized by splenomegaly with multiorgan extramedullary hematopoiesis, immature peripheral blood granulocytes and erythrocytes and progressive bone marrow fibrosis. The most common chromosomal abnormalities seen in CIMF patients include numerical changes of chromosomes 7, 8 and 9, and structural changes of 1q, 5q, 13q and 20q. At least 75.0% of patients with bone marrow abnormalities have one or more of these chromosomal anomalies. Detection of the Janus kinase 2 (JAK2) mutation may be a potential major breakthrough for understanding the pathobiology of MPNs, and is an essential part of the diagnostic algorithm. In this study, we describe a JAK2V617F mutation negative CIMF patient who has the chromosomal translocation t(3;12)(q26;q21) in her karyotype.

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.