ISSN 2997-1036
International Journal of Hematology | Vol. 5, No. 1, January 2014 | pp. 1–8
DOI: 10.46882/2014/IJH/000049
Original Article
Title: Cytogenetic aberrations and IGHV mutation status profiles in newly diagnosed chronic lymphocytic leukemia patients
Names of Authors: W. A. Adebayo¹, X. Y. Emeka², Z. Z. Salami³
Authors’ Affiliations: ¹Department of Haematology, University of Ibadan, Ibadan, Nigeria; ²Department of Haematology, University of Calabar Teaching Hospital, Calabar, Nigeria; ³Department of Pathology, Lagos University Teaching Hospital, Lagos, Nigeria
Abstract: Chromosomal aberrations and immunoglobulin heavy chain variable region (IGHV) mutational status are critical prognostic markers in chronic lymphocytic leukemia. This prospective study analyzed bone marrow and peripheral blood samples from 45 newly diagnosed chronic lymphocytic leukemia patients using fluorescence in situ hybridization panels and Sanger sequencing. Chromosomal deletions were detected in 71.1% (32 of 45) of the patients. Deletion 13q14 was the most frequent isolated finding, occurring in 44.4% of cases and correlating with a lower Binet clinical stage. Adverse risk aberrations, including deletion 17p13 (TP53 locus) and deletion 11q22, were identified in 11.1% and 13.3% of the cohort, respectively. An unmutated IGHV status (identity ≥ 98% to germline) was identified in 53.3% (24 of 45) of patients, correlating strongly with advanced clinical stages and the presence of 17p deletions (r = 0.52, P < 0.01). Patients with unmutated IGHV profiles demonstrated a significantly shorter median time to first treatment compared to those with mutated profiles (14 months versus 48 months, P < 0.001). Combining cytogenetic evaluations with molecular IGHV sequencing provides essential prognostic data that can help guide personalized treatment pathways.
Keywords: Chronic lymphocytic leukemia, fluorescence in situ hybridization, IGHV mutation, deletion 17p, prognosis
Manuscript Timeline: Received: October 14, 2013; Revised: November 25, 2013; Accepted: December 10, 2013; Published: January 15, 2014