ISSN 2997-1036
International Journal of Hematology | Vol. 9, No. 6, June 2018 | pp. 41–48
DOI: 10.46882/2018/IJH/000102
Original Article
Title: Prevalence and molecular profiles of ASXL1 and TET2 somatic mutations in chronic myelomonocytic leukemia variants
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: Chronic myelomonocytic leukemia combines myelodysplastic and myeloproliferative features, driven by distinct genetic alterations that influence its progression risk. This cross-sectional study investigated the mutational prevalence and clinical phenotypes of additional sex combs-like 1 (ASXL1) and ten-eleven translocation 2 (TET2) alterations in 42 adult patients with confirmed chronic myelomonocytic leukemia. Genomic DNA was isolated from peripheral blood leucocytes, followed by target-enrichment polymerase chain reaction and Sanger sequencing. TET2 mutations were detected in 45.2% (19 of 42) of the patients, while ASXL1 mutations occurred in 38.1% (16 of 42). Co-existing mutations in both genes were documented in 14.2% of the cases. Clinical correlation models revealed that patients harboring ASXL1 mutations displayed significantly higher baseline white blood cell counts (mean 28.4 × 10⁹/L versus 8.6 × 10⁹/L, P < 0.01) and an increased prevalence of severe splenomegaly, consistent with a dominant myeloproliferative variant (CMML-2). Conversely, isolated TET2 mutations correlated with a lower rate of acute transformation over a 12-month observation window. Screening for these somatic variants provides vital prognostic refinement, helping separate aggressive proliferative subtypes from indolent myelodysplastic chronic monocytosis.
Keywords: Chronic myelomonocytic leukemia, ASXL1 mutation, TET2 mutation, clonal hematopoiesis, molecular staging
Manuscript Timeline: Received: March 12, 2018; Revised: April 20, 2018; Accepted: May 10, 2018; Published: June 19, 2018
Subscribe to read the full article: https://www.internationalscholarsjournals.org/subscribe-to-read