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

Abstract:

: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.

journal_name

Mol Cytogenet

journal_title

Molecular cytogenetics

authors

Batista-Gomes JA,Mello FAR Jr,de Oliveira EHC,de Souza MPC,Wanderley AV,da Costa Pantoja L,Dos Santos NPC,Khayat BCM,Khayat AS

doi

10.1186/s13039-020-00491-5

subject

Has Abstract

pub_date

2020-06-26 00:00:00

pages

25

issn

1755-8166

pii

491

journal_volume

13

pub_type

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