title: Unlike AML1, CBFbeta gene is not deregulated by point mutations in acute myeloid leukemia and in myelodysplastic syndromes.
abstract: The core-binding factor (CBF) complex is a heterodimeric transcription factor composed of 2 subunits, CBFalpha and CBFbeta, that play a major role in hematopoiesis. Both members of the CBF complex are frequently altered in acute myeloid leukemia (AML) by translocation, most commonly t(8;21), t(12;21), and t(3;21) for CBFalpha, located in 21q22, and inv(16)(p13;q22) for CBFbeta, located on 16q22. Recently, a new mechanism of alteration of CBFalpha, by point mutation, has been reported in myeloid malignancies, particularly in M0 AML. In the present study, we found no point mutation of the CBFbeta gene in 30 myelodysplastic syndromes and 100 AMLs, suggesting a limited role, if any, of CBFbeta point mutations in those disorders.
authors: Laboratoire d'Hématologie A, Hôpital Calmette, and Service des Maladies du Sang, CHU Lille, Unité 524 INSERM, Institut de Recherche sur le Cancer de Lille, Paris, France.
authors: Hugues
authors: H
authors: Leroy
authors: Christophe
authors: C
authors: Roumier
authors: Nathalie
authors: N
authors: Grardel-Duflos
authors: Elizabeth
authors: E
authors: Macintyre
authors: Pascale
authors: P
authors: Lepelley
authors: Pierre
authors: P
authors: Fenaux
authors: Claude
authors: C
authors: Preudhomme
mesh_terms: D000208:Acute Disease; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011518:Proto-Oncogene Proteins; D050656:Transcription Factor AP-2; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; C493728:RUNX1 protein, human; D050656:Transcription Factor AP-2; D014157:Transcription Factors