Sun Yanran, Zhang Qiaosheng, Feng Guoshuang, Chen Zhen, Gao Chao, Liu Shuguang, Zhang Ruidong, Zhang Han, Zheng Xueling, Gong Wenyu, Wang Yadong, Wu Yong, Li Jie, Zheng Huyong
Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Hematology Oncology Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56 Nanlishi Road, Beijing, 100045 China.
2School of Computer Science and Technology, Harbin Institute of Technology, 92 West Dazhi Street, Nan Gang District, Harbin, 150001 Heilongjiang China.
Cancer Cell Int. 2019 Apr 25;19:110. doi: 10.1186/s12935-019-0825-y. eCollection 2019.
Acute lymphoblastic leukemia (ALL) contains cytogenetically distinct subtypes that respond differently to cytotoxic drugs. Therefore, subtype classification is important and indispensable in ALL diagnosis. In our previous study, we identified some marker genes in childhood ALL by means of microarray technology and, furthermore, detected the relative expression levels of 57 marker genes and built a comparatively convenient and cost-effective classifier with a prediction accuracy as high as 94% based on the advanced fragment analysis (AFA) technique.
A more convenient improved AFA (iAFA) technique with one-step multiplex RT-PCR and an anti-contamination system was developed to detect 57 marker genes for ALL.
The iAFA assay is much easier and more convenient to perform than the previous AFA assay and has a prediction accuracy of 95.29% in ALL subtypes. The anti-contamination system could effectively prevent the occurrence of lab DNA contamination. We also showed that marker gene expression profiles in pediatric ALL revealed 2 subgroups with different outcomes. Most ALL patients (95.8%) had a good-risk genetic profile, and only 4.2% of ALL patients had a poor-risk genetic profile, which predicted an event-free survival (EFS) of 93.6 ± 1.3% vs 18.8 ± 9.8% at 5 years, respectively ( < 0.001).
Compared to the previous AFA assay, the iAFA technique is more functional, time-saving and labor-saving. It could be a valuable clinical tool for the classification and risk stratification of pediatric ALL patients.
急性淋巴细胞白血病（ALL）包含细胞遗传学上不同的亚型，对细胞毒性药物的反应不同。因此，亚型分类在ALL诊断中至关重要且不可或缺。在我们之前的研究中，我们通过微阵列技术鉴定了儿童ALL中的一些标记基因，此外，检测了57个标记基因的相对表达水平，并基于先进的片段分析（AFA）技术构建了一个相对便捷且经济高效的分类器，预测准确率高达94%。
开发了一种更便捷的改进型AFA（iAFA）技术，采用一步多重逆转录聚合酶链反应（RT-PCR）和防污染系统来检测ALL的57个标记基因。
iAFA检测比之前的AFA检测更容易操作，在ALL亚型中的预测准确率为95.29%。防污染系统可有效防止实验室DNA污染的发生。我们还表明，儿科ALL中的标记基因表达谱揭示了两个预后不同的亚组。大多数ALL患者（95.8%）具有低风险遗传特征，只有4.2%的ALL患者具有高风险遗传特征，这分别预测5年无事件生存率（EFS）为93.6±1.3%和18.8±9.8%（P<0.001）。
与之前的AFA检测相比，iAFA技术功能更强、省时省力。它可能是儿科ALL患者分类和风险分层的有价值的临床工具。
