Leroy Hugues, Roumier Christophe, Grardel-Duflos Nathalie, Macintyre Elizabeth, Lepelley Pascale, Fenaux Pierre, Preudhomme Claude
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.
Blood. 2002 May 15;99(10):3848-50. doi: 10.1182/blood.v99.10.3848.
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.
核心结合因子（CBF）复合物是一种异二聚体转录因子，由两个亚基CBFα和CBFβ组成，它们在造血过程中起主要作用。CBF复合物的两个成员在急性髓系白血病（AML）中经常因易位而发生改变，对于位于21q22的CBFα，最常见的是t(8;21)、t(12;21)和t(3;21)，对于位于16q22的CBFβ，则是inv(16)(p13;q22)。最近，在髓系恶性肿瘤中，特别是在M0 AML中，报道了一种通过点突变改变CBFα的新机制。在本研究中，我们在30例骨髓增生异常综合征和100例AML中未发现CBFβ基因的点突变，提示CBFβ点突变在这些疾病中的作用有限（如果有作用的话）。
