title: A new D816 c-KIT gene mutation in refractory AML1-ETO leukemia.
abstract: One of the most common genetic events in acute myeloid leukemia (AML) is the t(8;21) (q22;q22) translocation, which contributes to leukemic transformation. However, different lines of evidence suggest that the AML1-ETO rearrangement is not sufficient to cause the full leukemic phenotype. Secondary genetic alterations such as mutations in receptor tyrosine kinases are thus required to induce overt AML. The incidence of c-KIT mutations in exon 17 was evaluated in 37 Spanish patients with AML1-ETO+ leukemias. c-KIT mutations were present in only two cases (6.6%) and were shown to be associated with an adverse outcome. The frequency of c-KIT mutations described here is much lower than in other reports.
authors.forename: Adriana
authors.initials: A
authors.lastname: Lasa
authors.forename: Maria T
authors.initials: MT
authors.lastname: Carricondo
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Carnicer
authors.forename: Granada
authors.initials: G
authors.lastname: Perea
authors.forename: Anna
authors.initials: A
authors.lastname: Aventín
authors.forename: Josep F
authors.initials: JF
authors.lastname: Nomdedeu
mesh_terms: D050676:Core Binding Factor Alpha 2 Subunit; D052138:Genes, Neoplasm / Q000235:genetics; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics*; D009154:Mutation; D015514:Oncogene Proteins, Fusion; D011379:Prognosis; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D000075142:RUNX1 Translocation Partner 1 Protein; D013030:Spain
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; D019009:Proto-Oncogene Proteins c-kit