title: Identification of additional cytogenetic and molecular genetic abnormalities in acute myeloid leukaemia with t(8;21)/AML1-ETO.
abstract: AML1-ETO collaborates with further genetic abnormalities to induce acute myeloid leukaemia (AML). We analysed 99 patients with an AML1-ETO rearrangement for additional aberrations. Frequent genetic abnormalities were, loss of a sex chromosome (56/99, 56.5%) and del(9)(q22) (24/99, 24.2%). The most frequent molecular aberrations were mutations of KITD816 (3/23, 13%) and NRAS (8/89, 8.9%). Further molecular abnormalities were FLT3 mutations (3/87, 3.4%), AML1 (1/26, 3.8%) and PU1 (1/14, 7.1%). MLL-PTD, KRAS and CEBPA mutations were not found. These clinical findings support the model that AML1-ETO collaborates with other genetic alterations, such as mutations of receptor tyrosine kinases, to induce AML.
authors.affiliation: GSF - Clinical Cooperative Group Leukemia, Munich, Germany. fkuchenbauer@web.de
authors.forename: F
authors.initials: F
authors.lastname: Kuchenbauer
authors.forename: S
authors.initials: S
authors.lastname: Schnittger
authors.forename: T
authors.initials: T
authors.lastname: Look
authors.forename: G
authors.initials: G
authors.lastname: Gilliland
authors.forename: D
authors.initials: D
authors.lastname: Tenen
authors.forename: T
authors.initials: T
authors.lastname: Haferlach
authors.forename: W
authors.initials: W
authors.lastname: Hiddemann
authors.forename: C
authors.initials: C
authors.lastname: Buske
authors.forename: C
authors.initials: C
authors.lastname: Schoch
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D003582:Cytogenetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007951:Leukemia, Myeloid; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D000075142:RUNX1 Translocation Partner 1 Protein; D014178:Translocation, Genetic
chemical_list: C107844:AML1-ETO fusion protein, human; D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; D000075142:RUNX1 Translocation Partner 1 Protein