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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.

Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis