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

• DOI: 10.1186/s13039-020-00491-5
• Publication Date: 2020-06-26T12:23:05Z
• Authors: Jéssica Almeida B...; Fernando Augusto ...; Edivaldo Herculan...; Michel Platini Ca...; Alayde Vieira Wan...; Laudreisa da Cost...; Ney Pereira Carne...; Bruna Cláudia Mei...; André Salim Khayat
• Keywords: Human genetics

Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated gene copy in childhood ALL by microarray select three new recurrent CNVs to evaluate real-time PCR assay: DMBT1, KIAA0125 PRDM16 were selected due high frequency samples based their potential biological functions carcinogenesis described literature. DBMT1 deletion was associated with patients chromosomal translocations is a tumor suppressor; act as an oncogene despite having paradoxical behavior carcinogenesis. This study reinforces that microarrays/aCGH it powerful tool for detection genomic aberrations, which be used risk stratification.