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Artigo Acesso aberto Produção Nacional Revisado por pares
BIBTEX RIS

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

2020; BioMed Central; Volume: 13; Issue: 1 Linguagem: Inglês

10.1186/s13039-020-00491-5

ISSN

1755-8166

Autores

Jéssica Almeida Batista-Gomes, Fernando Augusto Rodrigues Mello, Edivaldo Herculano Corrêa de Oliveira, Michel Platini Caldas de Souza, Alayde Vieira Wanderley, Laudreísa da Costa Pantoja, Ney Pereira Carneiro dos Santos, Bruna Cláudia Meireles Khayat, André Salim Khayat,

Tópico(s)

Acute Myeloid Leukemia Research

Resumo

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.

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