National Medical Research Center for Hematology, Novy Zykovski lane 4a, Moscow 125167, Russia.
Genes (Basel). 2023 Feb 20;14(2):532. doi: 10.3390/genes14020532.
Chronic lymphocytic leukemia (CLL) is one of the most common B-cell malignancies in Western countries. mutational status is the most important prognostic factor for this disease. CLL is characterized by an extreme narrowing of the genes repertoire and the existence of subgroups of quasi-identical stereotyped antigenic receptors (SAR). Some of these subgroups have already been identified as independent prognostic factors for CLL. Here, we report the frequencies of , and gene mutations and chromosomal aberrations assessed by NGS and FISH in 152 CLL patients with the most common SAR in Russia. We noted these lesions to be much more common in patients with certain SAR than average in CLL. The profile of these aberrations differs between the subgroups of SAR, despite the similarity of their structure. For most of these subgroups mutations prevailed in a single gene, except for CLL#5 with all three genes affected by mutations. It should be noted that our data concerning the mutation frequency in some SAR groups differ from that obtained previously, which could be due to the population differences between patient cohorts. The research in this area should be important for better understanding the pathogenesis of CLL and therapy optimization.
慢性淋巴细胞白血病（CLL）是西方国家最常见的 B 细胞恶性肿瘤之一。突变状态是该疾病最重要的预后因素。CLL 的特征是 基因谱极度狭窄，并且存在准同源定型抗原受体（SAR）的亚群。其中一些亚群已经被确定为 CLL 的独立预后因素。在这里，我们报告了通过 NGS 和 FISH 评估的 152 例俄罗斯最常见 SAR 的 CLL 患者中的 、 和 基因突变以及染色体异常的频率。我们注意到这些病变在具有特定 SAR 的患者中比 CLL 中的平均水平更为常见。尽管结构相似，但这些异常的谱在 SAR 的亚群之间存在差异。除了受突变影响的三个基因外，除了 CLL#5 外，大多数这些亚群中的突变都在单个基因中占主导地位。值得注意的是，我们关于某些 SAR 组中突变频率的数据与以前获得的数据不同，这可能是由于患者队列之间的人群差异所致。该领域的研究对于更好地理解 CLL 的发病机制和优化治疗非常重要。
