ISSN 2997-1036
International Journal of Hematology | Vol. 6, No. 2, February 2015 | pp. 9–16
DOI: 10.46882/2015/IJH/000062
Original Article
Title: Prevalence and molecular categorization of BCR-ABL1 transcript types in adult chronic myeloid leukemia patients
Names of Authors: G. M. Babalola¹, I. N. Nwosu², K. S. Abubakar³
Authors’ Affiliations: ¹Department of Haematology and Blood Transfusion, Lagos University Teaching Hospital, Lagos, Nigeria; ²Department of Medicine, University of Nigeria, Nsukka, Nigeria; ³Department of Pathology, Bayero University, Kano, Nigeria
Abstract: Characterizing the baseline BCR-ABL1 fusion transcript type in chronic myeloid leukemia is essential for selecting appropriate primers for quantitative molecular monitoring. This cross-sectional study investigated the prevalence and distribution of specific BCR-ABL1 transcript variations in 84 adult patients with newly diagnosed, Philadelphia chromosome-positive chronic myeloid leukemia. Total RNA was extracted from peripheral blood leucocytes, followed by qualitative multiplex reverse transcription polymerase chain reaction. The major BCR-ABL1 transcript (p210) was detected in 95.2% (80 of 84) of the patients. Among the p210 positive cohort, the b3a2 (e14a2) splice variant was the most common, occurring in 56.2% of cases, followed by the b2a2 (e13a2) variant in 38.8%, while 5.0% of patients co-expressed both variants. Rare transcript types, including the p190 (e1a2) micro-transcript, were identified in 4.8% of cases, primarily correlating with a more monomyelocytic phenotype. Patients with the b3a2 transcript variation demonstrated a higher mean baseline platelet count compared to b2a2 cohorts (642 × 10⁹/L versus 412 × 10⁹/L, P < 0.05). Multiplex reverse transcription PCR remains a vital initial diagnostic tool to establish transcript architecture before transitioning to quantitative real-time monitoring pathways.
Keywords: Chronic myeloid leukemia, BCR-ABL1 transcript, splice variants, polymerase chain reaction, molecular epidemiology
Manuscript Timeline: Received: November 05, 2014; Revised: December 14, 2014; Accepted: January 08, 2015; Published: February 17, 2015