Unlike AML1, CBFbeta gene is not deregulated by point mutations in acute myeloid leukemia and in myelodysplastic syndromes.
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.
Leroy
Hugues
H
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.
Roumier
Christophe
C
Grardel-Duflos
Nathalie
N
Macintyre
Elizabeth
E
Lepelley
Pascale
P
Fenaux
Pierre
P
Preudhomme
Claude
C
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*
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