IGHV MUTATIONAL STATUS IN A COHORT OF BULGARIAN CLL PATIENTS: HIGH UNMUTATED CLL PREVALENCE IN NORTH-EAST BULGARIA
Yosifova A, Micheva I, Donchev M, Tincheva S, Ormandjiev S,
Genova J, Pavlova Z, Todorova A
*Corresponding Author: Angelina Yosifova, Genetic Medico-Diagnostic Laboratory “Genica”, Sofia,
Bulgaria. Email: andjim91@gmail.com; Phone: +359888979313
page: 15
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Abstract
Chronic lymphocytic leukemia (CLL) is the most
common leukemia in adults. One of the best established
CLL prognostic markers is the somatic hypermutational
status of the IGHV gene which is a part of the immu-
noglobulin heavy chain variable region. Technology for
IGHV genotyping has been optimized and has been applied
in routine diagnostics for the first time in Bulgaria. A total
of 105 patients with CLL from different Bulgarian regions
were tested. IGHV mutational status was determined by
Sanger sequencing on total genomic DNA (gDNA) or RNA
extracted from mononuclear cells. All sequencing profiles
were analyzed with the IMGT/V-QUEST tool. Within the
course of the analysis a high percentage of IGHV unmu-
tated status was established in the Varna district on the
Black Sea (Northeast Bulgaria). In addition, the IGHV
genotyping performed on gDNA revealed a rare case with
multiple rearrangements. The present data from IGHV
genotyping will help in choosing the proper treatment for
the benefit of Bulgarian CLL patients.
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