儿童b细胞前体急性淋巴细胞白血病分子亚型中免疫球蛋白重位点重排的特征

EJHaem Pub Date : 2025-03-10 DOI:10.1002/jha2.70003
Guilherme Navarro Nilo Giusti, Patrícia Yoshioka Jotta, Caroline de Oliveira Lopes, Natacha Azussa Migita, Amilcar Cardoso de Azevedo, Sílvia Regina Brandalise, João Meidanis, José Andrés Yunes
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引用次数: 0

摘要

偏倚性IGH VDJ重组在儿童b细胞前体急性淋巴细胞白血病(BCP-ALL)中已有报道,尽管其原因尚未完全清楚。本研究评估了来自BCP-ALL分子亚群的565种IGH克隆型与来自骨髓供者的560种克隆型的差异特征。白血病克隆型在KMT2A重排亚型和B-other亚型中富集IGHV6-1片段,而在TCF3::PBX1中富集IGHV3-23片段。ETV6::RUNX1在中心IGHV段的使用中出现拓扑缺口。BCP-ALL也表现出较短的CDR3区域,较高的GC含量和较低的生产力。有趣的是,诱导治疗后,生产性克隆型往往不存在。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Characterization of Immunoglobulin Heavy Locus Rearrangements in Molecular Subtypes of Childhood B-Cell Precursor Acute Lymphoblastic Leukemia

Characterization of Immunoglobulin Heavy Locus Rearrangements in Molecular Subtypes of Childhood B-Cell Precursor Acute Lymphoblastic Leukemia

Biased IGH VDJ recombination has been previously described in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL), although its causes are not yet fully understood. This study assesses differential features in 565 IGH clonotypes from BCP-ALL molecular subsets against 560 clonotypes from bone marrow donors. Leukemia clonotypes were enriched for IGHV6-1 segments in the KMT2A rearranged and B-other subtypes, while IGHV3-23 was enriched in TCF3::PBX1. ETV6::RUNX1 presented a topological gap in the usage of central IGHV segments. BCP-ALL also presented shorter CDR3 regions, higher GC content, and lower productivity. Interestingly, productive clonotypes tended to be absent after induction therapy.

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