Yosifova A, Micheva I, Donchev M, Tincheva S, Ormandjiev S, Genova J, Pavlova Z, Todorova A
Genetic Medico-Diagnostic Laboratory "Genica", Sofia, Bulgaria.
University Multiprofessional Hospital for Active Treatment "Sveta Marina", Varna, Bulgaria.
Balkan J Med Genet. 2024 Sep 6;27(1):15-19. doi: 10.2478/bjmg-2024-0003. eCollection 2024 Jun.
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 gene which is a part of the immunoglobulin 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 unmutated 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.
慢性淋巴细胞白血病（CLL）是成人中最常见的白血病。已确立的CLL最佳预后标志物之一是基因的体细胞高突变状态，该基因是免疫球蛋白重链可变区的一部分。IGHV基因分型技术已得到优化，并首次在保加利亚应用于常规诊断。对来自保加利亚不同地区的105例CLL患者进行了检测。通过对从单核细胞中提取的全基因组DNA（gDNA）或RNA进行桑格测序来确定IGHV突变状态。所有测序图谱均使用IMGT/V-QUEST工具进行分析。在分析过程中，在黑海沿岸的瓦尔纳地区（保加利亚东北部）发现IGHV未突变状态的比例很高。此外，对gDNA进行的IGHV基因分型发现了1例罕见的多重重排病例。来自IGHV基因分型的当前数据将有助于为保加利亚CLL患者选择合适的治疗方法以使其受益。
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