1. Frequency of copy number abnormalities in common genes associated with B-cell precursor acute lymphoblastic leukemia cytogenetic subtypes in Brazilian children
- Author
-
Gilson Espinola Guedes Filho, Mariana Emerenciano, Gustavo Ribeiro Neves, Isis Q. Magalhães, Renato Melaragno, Andrea Gadelha, Thayana Conceição Barbosa, Marcelo Santos Souza, Eugênia Terra-Granado, and Maria S. Pombo-de-Oliveira
- Subjects
Genetic Markers ,Cancer Research ,Adolescent ,Pseudoautosomal region ,Gene Dosage ,Biology ,Gene dosage ,CDKN2A ,CDKN2B ,Precursor B-Cell Lymphoblastic Leukemia-Lymphoma ,Gene duplication ,Genetics ,Humans ,Multiplex ligation-dependent probe amplification ,Child ,Molecular Biology ,Gene Amplification ,Infant ,ETV6 ,Genetic marker ,Child, Preschool ,Cytogenetic Analysis ,Multiplex Polymerase Chain Reaction ,Brazil ,Gene Deletion - Abstract
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
- Published
- 2015