Acute megakaryoblastic leukemia and loss of the RUNX1 gene.
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.
Berger
Roland
R
EMI 0210 INSERM, Hôpital Necker-Enfants Malades, Paris, France. berger@necker.fr
Busson
Maryvonne
M
Dastugue
Nicole
N
Radford-Weiss
Isabelle
I
Michaux
Lucienne
L
Hagemeijer
Anne
A
Quilichini
Benoît
B
Benattar
Laurence
L
Bernard
Olivier
O
Romana
Serge P
SP
D000328:Adult; D000368:Aged; D002675:Child, Preschool; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007947:Leukemia, Megakaryoblastic, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged
D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human