title: Equal frequency of TEL/AML1+ acute lymphoblastic leukemia in children with and without Down syndrome.
abstract: Constitutional trisomy 21 is the most prominent predisposing factor to childhood leukemia, whereas the t(12;21)(p13;q22) with its molecular genetic counterpart, the TEL/AML1 fusion gene, is the most common acquired chromosomal rearrangement in childhood B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). Thus, it was somewhat surprising that according to the currently available literature the incidence of TEL/AML1+ BCP ALL is extremely low in patients with Down syndrome (DS). To further investigate this issue in a population-based fashion, the authors retrospectively assessed the number of DS patients with a TEL/AML1+ ALL in two consecutive Austrian ALL multicenter trials. Accordingly, they were able to analyze 8 of 10 individuals with DS and a BCP ALL, including 2 who suffered from a TEL/AML1+ leukemia. Based on this observation we concluded that individuals with a constitutional trisomy 21 may have the similar likelihood to develop a TEL/AML1+ leukemia as BCP ALL patients without this specific predisposingfactor.
authors.affiliation: St. Anna Children's Hospital, Vienna, Austria.
authors.forename: Manuel
authors.initials: M
authors.lastname: Steiner
authors.forename: Andishe
authors.initials: A
authors.lastname: Attarbaschi
authors.forename: Margit
authors.initials: M
authors.lastname: König
authors.forename: Helmut
authors.initials: H
authors.lastname: Gadner
authors.forename: Oskar A
authors.initials: OA
authors.lastname: Haas
authors.forename: Georg
authors.initials: G
authors.lastname: Mann
mesh_terms: D000293:Adolescent; D000328:Adult; D001317:Austria / Q000453:epidemiology; D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D050676:Core Binding Factor Alpha 2 Subunit; D004314:Down Syndrome / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D012189:Retrospective Studies; 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