Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated the gene copy number in childhood ALL by microarray and select three new recurrent CNVs to evaluate by real-time PCR assay: DMBT1, KIAA0125 and PRDM16 were selected due to high frequency of CNVs in ALL samples and based on their potential biological functions in carcinogenesis described in the literature. DBMT1 deletion was associated with patients with chromosomal translocations and is a potential tumor suppressor; KIAA0125 and PRDM16 may act as an oncogene despite having a paradoxical behavior in carcinogenesis. This study reinforces that microarrays/aCGH is it is a powerful tool for detection of genomic aberrations, which may be used in the risk stratification.

中文翻译：

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基于拷贝数分析鉴定小儿急性淋巴细胞白血病的新遗传改变。

拷贝数变异（CNV）分析可能揭示分子生物标志物，并提供有关急性淋巴细胞白血病（ALL）发病机理的信息。我们通过微阵列技术研究了儿童ALL中的基因拷贝数，并选择了三种新的复发CNV进行实时PCR测定：DMBT1，KIAA0125和PRDM16是由于ALL样品中CNV的频率较高，并基于它们潜在的生物学功能而选择的。文献中描述了致癌作用。DBMT1缺失与染色体易位患者有关，是潜在的肿瘤抑制因子。尽管KIAA0125和PRDM16在致癌过程中有悖论的行为，但它仍可以作为癌基因。这项研究强调了微阵列/ aCGH是否是检测基因组畸变的有力工具，可用于风险分层。