ISSN 2997-1036
International Journal of Hematology | Vol. 5, No. 4, April 2014 | pp. 25–32
DOI: 10.46882/2014/IJH/000052
Original Article
Title: Prevalence and molecular profiles of JAK2 V617F, CALR, and MPL mutations in patients with BCR-ABL1-negative myeloproliferative neoplasms
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: The diagnostic landscape of BCR-ABL1-negative myeloproliferative neoplasms has been redefined by discovering specific driver mutations. This cross-sectional study investigated the mutational prevalence and clinical correlates of JAK2 V617F, Calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) mutations in 72 adult patients with suspected essential thrombocythemia, polycythemia vera, or primary myelofibrosis. Genomic DNA was isolated from peripheral blood, followed by allele-specific PCR and Sanger sequencing analysis. The JAK2 V617F mutation was identified in 58.3% (42 of 72) of the entire cohort, including 92.3% of polycythemia vera and 41.9% of essential thrombocythemia cases. CALR mutations (Type 1 and Type 2) were detected in 19.4% (14 of 72) of patients, occurring exclusively in JAK2-negative essential thrombocythemia and myelofibrosis cases. MPL exon 10 mutations (W515L/K) were rare, found in only 4.2% of patients. Triple-negative status was documented in 18.1% of the cohort. Patients harboring CALR mutations displayed significantly lower white blood cell counts and a lower risk of thrombosis compared to those with JAK2 V617F mutations (P < 0.05). Screening for these driver variants optimizes diagnostic accuracy according to World Health Organization criteria.
Keywords: Myeloproliferative neoplasms, JAK2 V617F mutation, Calreticulin mutation, MPL mutation, molecular diagnostics
Manuscript Timeline: Received: January 10, 2014; Revised: February 18, 2014; Accepted: March 12, 2014; Published: April 16, 2014