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USP7突变与儿科T细胞急性淋巴细胞白血病和淋巴瘤的不良结果有关

Jun Li¹, Yuan Yuan², Feng-Feng Niu¹

¹Department of Clinical Laboratory Center, Key Laboratory of Major Diseases in Children Ministry of Education, Beijing Children's Hospital Capital Medical University, National Center for Children's Health, Beijing, 100045, China.

Annals of hematology

|September 22, 2025

概括

儿科T细胞急性淋巴细胞白血病/淋巴瘤 (T-ALL/LBL) 中USP7突变与较差的结局有关. 识别这些USP7突变可以提高T-ALL/LBL患者的预后准确性.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
儿科血液学/瘤学

背景情况:

了解儿科T细胞急性淋巴细胞白血病/淋巴瘤 (T-ALL/LBL) 的遗传变化对于改善治疗策略至关重要.
在T-ALL/LBL预后中USP7变化的作用尚未完全理解.

研究的目的:

研究患有USP7突变的儿科T-ALL/LBL患者的临床特征和长期结果.
评估USP7突变的预后意义,单独或与NOTCH1突变结合.

主要方法:

桑格测序用于检测USP7和NOTCH1突变在313名儿科T-ALL/LBL患者中.
考克斯回归和名谱模型被用来评估预后重要性.
分析了无事件生存率 (EFS) 和总生存率 (OS).

主要成果:

在12名患者中发现了USP7突变,与年龄较大和15日缓解率较低有关.
患有USP7突变的患者表现出明显更差的EFS和OS.
同时分析显示USP7^mutNOTCH1^wt基因型与最差的结果相关,而USP7^wtNOTCH1^mut显示最佳结果.
USP7突变,高MRD和中枢神经系统白血病是独立的不良预后因素.

结论:

USP7突变识别了一组小儿T-ALL/LBL患者的子集,这些患者有不良结果.
USP7突变状态是一个极具影响力的预后因素,提高了预测模型的准确性.
将USP7突变状态纳入风险分层可能会改进T-ALL/LBL的治疗决策.

关键词:

临床研究研究临床研究分子诊断是一种分子诊断.儿科儿科儿科预测因素是一个预测因素.所有的T-ALL.在T-LBLL中.

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