title: Frequency of the ETV6-RUNX1, BCR-ABL1, TCF3-PBX1, and MLL-AFF1 fusion genes in Guatemalan pediatric acute lymphoblastic leukemia patients and their ethnic associations.
abstract: Fusion genes involved in acute lymphoblastic leukemia (ALL) occur mostly due to genetic and environmental factors, and only a limited number of studies have reported any ethnic influence. This study assesses whether an ethnic influence has an effect on the frequency of any of the four fusion genes: BCR-ABL1, ETV6-RUNX1, TCF3-PBX1, and MLL-AFF1 found in ALL. To study this ethnic influence, mononuclear cells were obtained from bone marrow samples from 143 patients with ALL. We performed RNA extraction and reverse transcription, then assessed the quality of the cDNA by amplifying the ABL1 control gene, and finally evaluated the presence of the four transcripts by multiplex polymerase chain reaction. We found 10 patients who had the BCR-ABL1 fusion gene (7%); 3 patients (2%) were TCF3-PBX1 positive; and 6 patients (4.5%) were ETV6-RUNX1 positive. The incidence of this last fusion gene is quite low when compared to the values reported in most countries. The low incidence of the ETV6-RUNX1 fusion gene found in Guatemala matches the incidence rates that have been reported in Spain and Indian Romani. Since it is known that an ethnic resemblance exists among these three populations, as shown by ancestral marker studies, the ALL data suggests an ethnic influence on the occurrence and frequency of this particular fusion gene.
authors.affiliation: Institute for Research on Genetic and Metabolic Diseases, Guatemala. ccarranza@invegem.org
authors.forename: Claudia
authors.initials: C
authors.lastname: Carranza
authors.forename: Lilian
authors.initials: L
authors.lastname: Granados
authors.forename: Oneida
authors.initials: O
authors.lastname: Morales
authors.forename: Wendy
authors.initials: W
authors.lastname: Jo
authors.forename: Swuanny
authors.initials: S
authors.lastname: Villagran
authors.forename: Damaris
authors.initials: D
authors.lastname: Tinti
authors.forename: Mauricio
authors.initials: M
authors.lastname: Villegas
authors.forename: Federico
authors.initials: F
authors.lastname: Antillón
authors.forename: Silvana
authors.initials: S
authors.lastname: Torselli
authors.forename: Gabriel
authors.initials: G
authors.lastname: Silva
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D006166:Guatemala / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007223:Infant; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D015203:Reproducibility of Results; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D016044:Fusion Proteins, bcr-abl; D015514:Oncogene Proteins, Fusion; C581634:BCR-ABL1 fusion protein, human; C543638:TCF3-PBX1 fusion protein, human; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein
keywords: Fusion genes; Guatemalan; acute lymphoblastic leukemia; pediatric leukemia; populations