Analysis of gene rearrangements using a fluorescence in situ hybridization method in Mexican patients with acute lymphoblastic leukemia: experience at a single institution.
We evaluated the prevalence of BCR/ABL, MLL, and ETV6/RUNX1 rearrangements as well as CDKN2A (alias p16) deletion in a group of Mexican children with acute lymphoblastic leukemia (ALL) to determine whether the changes coexist, and to compare the incidences found with other reports in the literature. To increase the detection of these abnormalities, we combined conventional cytogenetics and fluorescence in situ hybridization (FISH) analysis. Bone marrow samples were obtained from 59 consecutive children with ALL. FISH detected a total of 63 abnormalities with the selected probes, 34 of which were related to the conventional cytogenetic results. The most common abnormality was the p16 deletion (22.8%), followed by MLL and ETV6/RUNX1 rearrangements (8.7%), and the BCR/ABL fusion was the least frequent (2.7%). The coexistence of two recurrent abnormalities with specific prognostic significance in the same patient was not found. A lesser proportion of the p16 deletion in T-ALL patients was observed, probably related to the low prevalence of this subtype in our population. In addition, we confirmed the low frequency of the ETV6/RUNX1 fusion observed in Hispanics. Due to the different prevalence of these abnormalities in the Mexican population, similar studies should be conducted analyzing new rearrangements, to improve the adequate classification of the abnormalities and the stratification in prognostic groups.
Pérez-Vera
Patricia
P
Department of Research in Human Genetics, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, Col. Insurgentes Cuicuilco, Mexico City DF 04530, Mexico. pperezvera@yahoo.com
Salas
Consuelo
C
Montero-Ruiz
Oreth
O
Frías
Sara
S
Dehesa
Gloria
G
Jarquín
Berenice
B
Rivera-Luna
Roberto
R
D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D002888:Chromosomes, Human, Pair 19; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D016313:Genes, abl; D019942:Genes, p16; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008800:Mexico; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D000097764:ETS Translocation Variant 6 Protein
D050676:Core Binding Factor Alpha 2 Subunit; D011495:Histone-Lysine N-Methyltransferase; D051788:Myeloid-Lymphoid Leukemia Protein; D015514:Oncogene Proteins, Fusion; C497422:KMT2A protein, human; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein