Author/Authors :
Berger، نويسنده , , Roland and Busson، نويسنده , , Maryvonne and Dastugue، نويسنده , , Nicole and Radford-Weiss، نويسنده , , Isabelle and Michaux، نويسنده , , Lucienne and Hagemeijer، نويسنده , , Anne and Quilichini، نويسنده , , Benoît and Benattar، نويسنده , , Laurence and Bernard، نويسنده , , Olivier and Romana، نويسنده , , Serge P.، نويسنده ,
Abstract :
Since the RUNX1 gene contributes to megakaryopoiesis and acquired trisomy 21 is the most frequent numerical chromosome anomaly in acute megakaryoblastic leukemia (AMLK), a systematic study of RUNX1 abnormalities was performed by fluorescence in situ hybridization in AMLK patients. Four abnormalities were detected among 15 patients. One copy of RUNX1 was completeley or partially lost in three patients and translocated onto Xq24 in the fourth. The possible consequences of RUNX1 haploinsufficiency are discussed.