FREQUENCY OF THE ETV6-RUNX1, BCR-ABL1, TCF3-PBX1 AND MLL-AFF1 FUSION GENES IN GUATEMALAN PEDIATRIC ACUTE LYMPHOBLASTIC LEUKEMIA PATIENTS AND ITS ETHNIC ASSOCIATIONS

ABSTRACT

FIGURE-1Fusion genes involved in acute lymphoblastic leukemia (ALL) occur mostly due to genetic and environmental factors, and there are only a limited number of studies that 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. In order to study this ethnic influence, mononuclear cells were obtained from bone marrow samples from 143 patients with acute lymphoblastic leukemia. We performed RNA extraction and reverse transcription; then assessed the quality of the cDNA by amplifying the ABL control gene, and finally evaluated the presence of the four transcripts by multiplex polymerase chain reaction. We found ten patients had the BCR-ABL1 fusion gene (7%); three patients (2%) were TCF3-PBX1 positive; and six 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 agrees with the incidences that have been reported in Spain and Indian Romani. Since it is known that there is an ethnic resemblance 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.

DATA PUBLISHED: Cancer Genet. 2013 Jun;206(6):227-32.