title: Acute megakaryoblastic leukemia and loss of the RUNX1 gene.
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.
authors.affiliation: EMI 0210 INSERM, Hôpital Necker-Enfants Malades, Paris, France. berger@necker.fr
authors.forename: Roland
authors.initials: R
authors.lastname: Berger
authors.forename: Maryvonne
authors.initials: M
authors.lastname: Busson
authors.forename: Nicole
authors.initials: N
authors.lastname: Dastugue
authors.forename: Isabelle
authors.initials: I
authors.lastname: Radford-Weiss
authors.forename: Lucienne
authors.initials: L
authors.lastname: Michaux
authors.forename: Anne
authors.initials: A
authors.lastname: Hagemeijer
authors.forename: Benoît
authors.initials: B
authors.lastname: Quilichini
authors.forename: Laurence
authors.initials: L
authors.lastname: Benattar
authors.forename: Olivier
authors.initials: O
authors.lastname: Bernard
authors.forename: Serge P
authors.initials: SP
authors.lastname: Romana
mesh_terms: 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
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human