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儿童急性淋巴细胞白血病中MTAP重组的临床影响:全转录组分析的见解

Sidong Zhang^1,2, Zhengyu Wu³, Yufeng Liu¹

¹Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Pediatric blood & cancer

|November 20, 2025

概括

在9.47%的儿科急性淋巴细胞白血病 (ALL) 病例中发现了甲基铁氨酸酸化酶 (MTAP) 的重组. 这些重组与不良的临床特征和较差的预后有关,这表明MTAP-r是潜在的生物标志物.

科学领域:

血液学血液学血液学
在瘤学瘤学.
分子生物学分子生物学

背景情况:

儿科急性淋巴细胞白血病 (ALL) 是最常见的儿童癌症.
了解ALL的分子驱动因素对于改善治疗结果至关重要.
甲基氨酸酸化酶 (MTAP) 基因变异与各种癌症有关.

研究的目的:

调查MTAP重组在儿科ALL中的患病率和分子特征.
评估MTAP重组对患者特征,治疗反应和预后的临床影响.

主要方法:

对338名儿科ALL患者的回顾性分析.
分层为MTAP重新排列 (MTAP-r) 和非MTAP-r组.
组间临床特征,分子概况和结果的比较.

主要成果:

在9.47%的患者中发现了MTAP重组.
在MTAP-r患者中,T-ALL发病率较高,白血球数量增加,LDH增加,中高风险分类.
观察到明显的MTAP重组模式 (例如,MTAP::CDKN2B-AS1) 和NOTCH1,PTEN等的共同突变.
MTAP-r ALL与明显较差的结局有关.

结论:

MTAP重组定义了一个独特的,临床上不利的儿科ALL子集.
这个子集的特点是特定的融合架构和不利的共同突变模式.
MTAP-r作为临床试验招生和风险适应治疗策略的潜在生物标志物.

关键词:

在MTAP的重新安排.临床特征临床特征儿科急性淋巴细胞白血病预后预后预后全转基因组测序全转基因组测序

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