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与B系淋巴细胞白血病的关联基因多态性与预后特征差的基因多态性

Aigul Bazarbayeva¹, Lyazat Manzhuova², Gulnara Svyatova³

¹Department of Science and Postgraduate Education, Scientific Center of Pediatrics and Pediatric Surgery, Almaty, Republic of Kazakhstan.

Asian Pacific journal of cancer prevention : APJCP

|December 29, 2024

概括

遗传变异与儿童B系急性淋巴细胞白血病 (B-ALL) 的不良结果有关. 识别这些基因多态化可以帮助预测复发风险,并指导个性化治疗策略,以获得更好的患者结果.

科学领域:

儿科瘤学儿科瘤学
遗传学是一个遗传学.
血液学血液学血液学

背景情况:

乙系急性淋巴细胞白血病 (B-ALL) 是一个重要的儿童癌症.
在B-ALL中预后不利的特征需要改进风险分层和治疗策略.

研究的目的:

研究基因多态化与儿科B-ALL患者的临床/实验室数据与不良预后之间的相关性.
确定与B-ALL.不良结果相关的特定遗传标记.

主要方法:

在200名儿科B-ALL患者中,使用TaqMan方法对24个多态位点进行基因定型.
分析将遗传变异与临床数据相关联,包括初始白细胞瘤,中枢神经系统参与,壮症和治疗反应.
特别分析了预后不良的患者和复发的患者.

主要成果:

13种基因变异 (54%) 与B-ALL和不良预后特征有显著的关联.
相关的基因包括HLA,TNF,GATA3,TP53,CASP9,CASP8,CEBPE,PIP4K2A,CASC8,IRF4,CYP1A1和ARID5B. 这些基因的相关基因是:
特定的单核酸多态 (SNP),如rs6457327 (HLA) 和rs1800630 (TNF) 已被确定.

结论:

确定了特定基因多态和不良B-ALL预后之间的显著关联.
这些发现可以为复发风险和治疗耐药性的预测工具的开发提供信息.
基于确定不良基因型的遗传咨询可以为儿科B-ALL患者指导个性化监测和治疗强化.

关键词:

生物标志物生物标志物基因多态的多态化遗传倾向遗传倾向遗传倾向基因组突变基因组突变这种白血病是白血病.

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