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

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,...

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Detalles Bibliográficos
Autores principales: Batista-Gomes, Jéssica Almeida, Mello, Fernando Augusto Rodrigues, de Oliveira, Edivaldo Herculano Corrêa, de Souza, Michel Platini Caldas, Wanderley, Alayde Vieira, da Costa Pantoja, Laudreisa, dos Santos, Ney Pereira Carneiro, Khayat, Bruna Cláudia Meireles, Khayat, André Salim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320540/
https://www.ncbi.nlm.nih.gov/pubmed/32607130
http://dx.doi.org/10.1186/s13039-020-00491-5
Descripción
Sumario: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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