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BIBTEX RIS

Frequency of copy number abnormalities in common genes associated with B-cell precursor acute lymphoblastic leukemia cytogenetic subtypes in Brazilian children

2015; Elsevier BV; Volume: 208; Issue: 10 Linguagem: Inglês

10.1016/j.cancergen.2015.06.003

2210-7770

Thayana C. Barbosa, Eugênia Terra‐Granado, Isis Maria Quezado Magalhães, Gustavo Ribeiro Neves, Andrea Targino Gadelha, Gilson Espínola Guedes Filho, Marcelo Santos de Souza, Renato Melaragno, Mariana Emerenciano, Maria S. Pombo‐de‐Oliveira,

Genomic variations and chromosomal abnormalities

Copy number alterations (CNAs) in genes committed to B-cell precursors have been associated with poor survival in subgroups of patients with B-cell precursor acute lymphoblastic leukemia (BCP-ALL). We investigated submicroscopic alterations in a series of 274 Brazilian children with BCP-ALL by multiplex ligation-dependent probe amplification and evaluated their correlation with clinical and laboratory features. The relevance of overlapping CNA abnormalities was also explored. Deletions/amplifications in at least one gene were identified in 83% of the total series. In children older than 2 years, there was a predominance of CNAs involving deletions in IKZF1, CDKN2A, and CDKN2B, whereas the pseudoautosomal region 1 (PAR1) had deletions that were found more frequently in infants (P <0.05). Based on the cytogenetic subgroups, favorable cytogenetic subgroups showed more deletions than other subgroups that occurred simultaneously, specifically ETV6 deletions (P <0.05). TCF3-PBX1 was frequently deleted in RB1, and an absence of deletions was observed in IKZF1 and genes localized to the PAR1 region. The results corroborate with previous genome-wide studies and aggregate new markers for risk stratification of BCP-ALL in Brazil.