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作为B-ALL治疗耐药性的潜在生物标志物,PSG和其他候选基因:从染色体微阵列分析和机器学习的见解

Valeriya Surimova^1,2, Natalya Risinskaya¹, Ekaterina Kotova¹

¹National Medical Research Center for Hematology, 125167 Moscow, Russia.

International journal of molecular sciences

|August 14, 2025

概括

染色体微阵列分析确定了B细胞急性淋巴细胞白血病 (B-ALL) 的特定遗传变化,与最小残留疾病 (MRD) 阳性缓解相关. 这些发现,包括拷贝数的改变和异构性丧失,可能会改善B-ALL患者的风险分层.

科学领域:

遗传学是一个遗传学.
在瘤学瘤学.
分子生物学分子生物学

背景情况:

最小残留性疾病 (MRD) 是B细胞急性淋巴细胞白血病 (B-ALL) 复发的关键预测因素.
了解MRD阳性缓解的基因组基础对于改善治疗策略至关重要.

研究的目的:

为了研究复制数变化 (CNAs) 和复制中性异构性损失 (cnLOH) 在B-ALL患者的MRD阳性缓解.
确定与治疗反应不佳和白血病持续性相关的特定基因组区域.

主要方法:

对40名B-ALL患者进行了染色体微阵列分析 (CMA),这些患者接受了ALL-2016协议治疗.
使用随机森林方法来识别显著的CNA和cnLOH.
来自健康人口的基因组数据被用作参考.

主要成果:

在19q13.2-19q13.31区域的复发性cnLOH,包括PSG基因家族和ERF瘤基因,在MRD阳性患者中显著丰富.
在7p22.3和16q13观察到显著的删除,表明全球染色体不稳定.
特定的基因组变化与治疗反应不佳和更高的MRD水平有关.

结论:

高分辨率的CMA对于B-ALL的诊断和风险分层非常有价值.
19q13.2-19q13.31区域,PSG基因和ERF可能在B-ALL治疗耐药性中发挥作用.
鉴定出基因组生物标志物可以帮助预测治疗结果和个性化治疗.

关键词:

急性B型淋巴细胞白血病 (B-ALL)副本中性的异构性损失 (cnLOH)副本编号变更 (CNAs) 的变化基因基因基因基因机器学习是机器学习.

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