title: Involvement of der(12)t(12;21)(p13;q22) and as well as additional rearrangements of chromosome 12 homolog in ETV6/RUNX1-positive acute lymphoblastic leukemia.
abstract: The t(12;21) translocation is the most common translocation in childhood B-precursor ALL. Because G-banding cannot detect the cryptic t(12;21), the full characterization of additional aberrations involving chromosome 12 is often difficult. Spectral karyotyping (SKY) can distinguish a der(12)t(12;21) chromosome from a nonrearranged chromosome 12. We therefore applied SKY on an unselected series of 14 patients after G-banding analysis for the detection of additional chromosomal rearrangements and especially for aberrations involving chromosome 12. Chromosome 12 was the most frequently affected by structural aberrations, with involvement of both homologs. Structural aberrations of der(12)t(12;21) in addition to the typical t(12;21) were found in five patients and structural aberrations of the nonrearranged chromosome 12 were found in four patients. This study points to the susceptibility of der(12)t(12;21) and the other chromosome 12 homolog to further rearrangement.
authors.affiliation: Molecular Cytogenetics, Institute of Hematology, Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: Racheli
authors.initials: R
authors.lastname: Stanchescu
authors.forename: David R
authors.initials: DR
authors.lastname: Betts
authors.forename: Gideon
authors.initials: G
authors.lastname: Rechavi
authors.forename: Ninette
authors.initials: N
authors.lastname: Amariglio
authors.forename: Luba
authors.initials: L
authors.lastname: Trakhtenbrot
mesh_terms: D002648:Child; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12; D002891:Chromosomes, Human, Pair 21; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics* / Q000378:metabolism; D020732:Cytogenetic Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008954:Models, Biological; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D012189:Retrospective Studies; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein