IGHV Mutational Status in a Cohort of Bulgarian CLL Patients: High Unmutated CLL Prevalence in North-East Bulgaria.

IF 0.5 4区医学 Q4 GENETICS & HEREDITY

Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI:10.2478/bjmg-2024-0003

A Yosifova, I Micheva, M Donchev, S Tincheva, S Ormandjiev, J Genova, Z Pavlova, A Todorova

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引用次数: 0

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 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.

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保加利亚 CLL 患者队列中的 IGHV 突变状态：保加利亚东北部未突变 CLL 患病率较高

慢性淋巴细胞白血病（CLL）是成人中最常见的白血病。IGHV 基因是免疫球蛋白重链可变区的一部分，其体细胞高突变状态是 CLL 最佳预后标志物之一。保加利亚对 IGHV 基因分型技术进行了优化，并首次将其应用于常规诊断中。保加利亚不同地区共检测了 105 名 CLL 患者。通过对从单核细胞中提取的总基因组 DNA（gDNA）或 RNA 进行桑格测序，确定 IGHV 突变状态。所有测序结果均使用 IMGT/V-QUEST 工具进行分析。在分析过程中，黑海瓦尔纳区（保加利亚东北部）的 IGHV 未突变状态比例较高。此外，对 gDNA 进行的 IGHV 基因分型还发现了一个罕见的多重重排病例。目前的IGHV基因分型数据将有助于选择适当的治疗方法，造福保加利亚CLL患者。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Balkan Journal of Medical Genetics 医学-遗传学

CiteScore

1.00

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.