Acute megakaryoblastic leukemia and loss of the RUNX1 gene

Cancer Genet Cytogenet. 2006 Jan 1;164(1):71-3. doi: 10.1016/j.cancergencyto.2005.05.002.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Child, Preschool
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Infant
  • Infant, Newborn
  • Leukemia, Megakaryoblastic, Acute / genetics*
  • Male
  • Middle Aged

Substances

  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human