title: BCR-ABL, ETV6-RUNX1 and E2A-PBX1: prevalence of the most common acute lymphoblastic leukemia fusion genes in Mexican patients.
abstract: This study was conducted to determine the frequency of the most common fusion genes in Mexican pediatric patients with acute lymphoblastic leukemia (ALL). Molecular analysis using RT-PCR was carried out in 53-blood samples: 52 patients with de novo ALL and one with relapsed ALL. The ETV6-RUNX1 fusion was found in 7 cases (13.5%), BCR-ABL fusion was detected in 2 cases (3.8%), and 6 patients (11.5%) expressed the chimeric gene E2A-PBX1. The prevalence of E2A-PBX1 is one of the highest that has been described thus far in childhood ALL. Furthermore, we detected both the BCR-ABL, and E2A-PBX1 fusion in the relapsed patient. With regards to the immunophenotype, ETV6-RUNX1 was expressed in both pre-B and T-cell cases, while the presence of E2A-PBX1 and BCR-ABL was associated with the pre-B ALL phenotype. The prevalence of E2A-PBX1 in Mexican pediatric cases supports the existence of ethnic differences in the frequency of molecular markers of ALL.
authors.affiliation: Multifactorial Disease Laboratory, Instituto Nacional de Medicina Genómica, Mexico.
authors.forename: S
authors.initials: S
authors.lastname: Jiménez-Morales
authors.forename: E
authors.initials: E
authors.lastname: Miranda-Peralta
authors.forename: Y
authors.initials: Y
authors.lastname: Saldaña-Alvarez
authors.forename: P
authors.initials: P
authors.lastname: Perez-Vera
authors.forename: R
authors.initials: R
authors.lastname: Paredes-Aguilera
authors.forename: R
authors.initials: R
authors.lastname: Rivera-Luna
authors.forename: R
authors.initials: R
authors.lastname: Velázquez-Cruz
authors.forename: J
authors.initials: J
authors.lastname: Ramírez-Bello
authors.forename: A
authors.initials: A
authors.lastname: Carnevale
authors.forename: L
authors.initials: L
authors.lastname: Orozco
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D005787:Gene Frequency; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008800:Mexico; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000208:ethnology / Q000235:genetics*; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D016044:Fusion Proteins, bcr-abl; D018398:Homeodomain Proteins; D015514:Oncogene Proteins, Fusion; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein; C493728:RUNX1 protein, human; C089847:E2A-Pbx1 fusion protein