基因拷贝数变异在儿童急性B淋巴细胞白血病中的研究进展

许喜原; 胡群

doi:10.7499/j.issn.1008-8830.2501007

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中国当代儿科杂志 ›› 2025, Vol. 27 ›› Issue (6) : 746-752. DOI: 10.7499/j.issn.1008-8830.2501007

综述

基因拷贝数变异在儿童急性B淋巴细胞白血病中的研究进展

许喜原 (综述) ,
胡群 (审校)

作者信息 +

Research progress on copy number alterations in pediatric B-cell acute lymphoblastic leukemia

Xi-Yuan XU ,
Qun HU

Author information +

文章历史 +

摘要

基因拷贝数变异（copy number alteration, CNA）是儿童急性B淋巴细胞白血病（B-cell acute lymphoblastic leukemia, B-ALL）的重要遗传学改变形式，其中以CDKN2A/B缺失、PAX5缺失、IKZF1缺失最为常见。近年来，越来越多的研究揭示了以上基因缺失及多重共缺失在儿童B-ALL中具有潜在的预后指标的价值。该文就CNA主要检测手段及儿童B-ALL中常见CNA的预后特点和治疗方式作一综述。

Abstract

Copy number alteration (CNA) is a significant genetic change in pediatric B-cell acute lymphoblastic leukemia (B-ALL), with CDKN2A/B deletions, PAX5 deletions, and IKZF1 deletions being the most common. Recent studies have increasingly highlighted the potential prognostic significance of these gene deletions and multiple co-deletions in pediatric B-ALL. This paper reviews the main detection methods for CNA, as well as the prognostic characteristics and treatment approaches for common CNA in pediatric B-ALL.

导出引用

许喜原, 胡群. 基因拷贝数变异在儿童急性B淋巴细胞白血病中的研究进展[J]. 中国当代儿科杂志. 2025, 27(6): 746-752 https://doi.org/10.7499/j.issn.1008-8830.2501007

Xi-Yuan XU, Qun HU. Research progress on copy number alterations in pediatric B-cell acute lymphoblastic leukemia[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(6): 746-752 https://doi.org/10.7499/j.issn.1008-8830.2501007

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