Abstract：
OBJECTIVE: Acute Lymphoblastic Leukemia (ALL) is the most common malignancy occurring in children. Copy number alterations (CNA) like PAX5, CDKN2A/2B, PAR1 Region, ETV6, IKZF1, BTG1, and RB1 gene deletion are important genetic events that define and prognosticate B-cell ALL. Thus, this study aimed to evaluate associations of CNA with induction phase remission status in childhood B-cell ALL.
METHODS: This study was observational with a cross-sectional design at the Dharmais Cancer Hospital, Harapan Kita Mother and Children Hospital, and Tangerang Regional Public Hospital. We evaluated 74 pediatric B-cell ALL cases with 1-18-year-olds. Genomic DNA was analyzed by Multiplex Ligation Dependent Probe Amplification Assay (MLPA). This study used the P335 ALL-IKZF1 panel kit, which contains several ALL-related genes. The patient\'s clinical and laboratory characteristics were collected from medical records from January to December 2019.
RESULTS: We observed gene copy number alteration in children with B-Cell ALL. PAX5 was the most commonly observed gene deletion, followed by CDKN21/2B, ETV6, IKZF1, BTG1, RB1, and PAR1 Region. Based on gene mutations, only the PAX5 had a significant association with the remission status of pediatric B-cell ALL (p-value <0.05; OR = 3.91). It showed that patients with PAX5 gene mutations have 3.9 times the risk of no remission and/or relapse compared to those without PAX5 gene mutations.
CONCLUSIONS: Patients with mutations in the PAX5 gene have a higher chance of not achieving remission and/or experiencing relapse than those without such mutations. The MLPA method can be utilized for examining copy number alterations, which is valuable for achieving more precise stratification in diagnosis.. Further research is needed to expand upon this finding.
METHODS: This study was observational with a cross-sectional design at the Dharmais Cancer Hospital, Harapan Kita Mother and Children Hospital, and Tangerang Regional Public Hospital. We evaluated 74 pediatric B-cell ALL cases with 1-18-year-olds. Genomic DNA was analyzed by Multiplex Ligation Dependent Probe Amplification Assay (MLPA). This study used the P335 ALL-IKZF1 panel kit, which contains several ALL-related genes. The patient\'s clinical and laboratory characteristics were collected from medical records from January to December 2019.
RESULTS: We observed gene copy number alteration in children with B-Cell ALL. PAX5 was the most commonly observed gene deletion, followed by CDKN21/2B, ETV6, IKZF1, BTG1, RB1, and PAR1 Region. Based on gene mutations, only the PAX5 had a significant association with the remission status of pediatric B-cell ALL (p-value <0.05; OR = 3.91). It showed that patients with PAX5 gene mutations have 3.9 times the risk of no remission and/or relapse compared to those without PAX5 gene mutations.
CONCLUSIONS: Patients with mutations in the PAX5 gene have a higher chance of not achieving remission and/or experiencing relapse than those without such mutations. The MLPA method can be utilized for examining copy number alterations, which is valuable for achieving more precise stratification in diagnosis.. Further research is needed to expand upon this finding.
摘要：
目的：急性淋巴细胞白血病（ALL）是儿童中最常见的恶性肿瘤。拷贝数改变(CNA)，如PAX5、CDKN2A/2B、PAR1区域,ETV6，IKZF1，BTG1和RB1基因缺失是定义和预测B细胞ALL的重要遗传事件。因此，本研究旨在评估儿童B细胞ALL中CNA与诱导期缓解状态的相关性.
方法：这项研究是在Dharmais肿瘤医院进行的横断面设计观察性的，HarapanKita母亲和儿童医院，和坦格朗地区公立医院。我们评估了74例1-18岁儿童的B细胞ALL病例。通过多重连接依赖性探针扩增测定(MLPA)分析基因组DNA。这项研究使用了P335ALL-IKZF1面板套件，其中包含几个与ALL相关的基因。从2019年1月至12月的病历中收集患者的临床和实验室特征。
结果：我们观察到B细胞ALL患儿的基因拷贝数改变。PAX5是最常见的基因缺失，其次是CDKN21/2B，ETV6、IKZF1、BTG1、RB1和PAR1区。基于基因突变,只有PAX5与小儿B细胞ALL的缓解状态有显著关联(p值<0.05;OR=3.91).与没有PAX5基因突变的患者相比，有PAX5基因突变的患者没有缓解和/或复发的风险是其3.9倍。
结论：有PAX5基因突变的患者比没有这种突变的患者有更高的机会不能达到缓解和/或经历复发。MLPA方法可用于检查拷贝数改变，这对于在诊断中实现更精确的分层是有价值的。.需要进一步的研究来扩展这一发现。
方法：这项研究是在Dharmais肿瘤医院进行的横断面设计观察性的，HarapanKita母亲和儿童医院，和坦格朗地区公立医院。我们评估了74例1-18岁儿童的B细胞ALL病例。通过多重连接依赖性探针扩增测定(MLPA)分析基因组DNA。这项研究使用了P335ALL-IKZF1面板套件，其中包含几个与ALL相关的基因。从2019年1月至12月的病历中收集患者的临床和实验室特征。
结果：我们观察到B细胞ALL患儿的基因拷贝数改变。PAX5是最常见的基因缺失，其次是CDKN21/2B，ETV6、IKZF1、BTG1、RB1和PAR1区。基于基因突变,只有PAX5与小儿B细胞ALL的缓解状态有显著关联(p值<0.05;OR=3.91).与没有PAX5基因突变的患者相比，有PAX5基因突变的患者没有缓解和/或复发的风险是其3.9倍。
结论：有PAX5基因突变的患者比没有这种突变的患者有更高的机会不能达到缓解和/或经历复发。MLPA方法可用于检查拷贝数改变，这对于在诊断中实现更精确的分层是有价值的。.需要进一步的研究来扩展这一发现。
