Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.
Jéssica Almeida Batista-GomesFernando Augusto Rodrigues MelloEdivaldo Herculano Corrêa de OliveiraMichel Platini Caldas de SouzaAlayde Vieira WanderleyLaudreisa da Costa PantojaNey Pereira Carneiro Dos SantosBruna Cláudia Meireles KhayatAndré Salim KhayatPublished in: Molecular cytogenetics (2020)
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.
Keyphrases
- copy number
- mitochondrial dna
- acute lymphoblastic leukemia
- genome wide
- high frequency
- real time pcr
- dna methylation
- systematic review
- allogeneic hematopoietic stem cell transplantation
- healthcare
- gene expression
- high resolution
- transcription factor
- single cell
- human health
- climate change
- quantum dots
- young adults
- high speed