Down syndrome, RASopathies, and other rare syndromes

Christian P. Kratz*, Shai Izraeli

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


In this article we discuss the occurrence of myeloid neoplasms in patients with a range of syndromes that are due to germline defects of the RAS signaling pathway and in patients with trisomy 21. Both RAS mutations and trisomy 21 are common somatic events contributing to leukemogenis. Thus, the increased leukemia risk observed in children affected by these conditions is biologically highly plausible. Children with myeloid neoplasms in the context of these syndromes require different treatments than children with sporadic myeloid neoplasms and provide an opportunity to study the role of trisomy 21 and RAS signaling during leukemogenesis and development.

Original languageEnglish
Pages (from-to)123-128
Number of pages6
JournalSeminars in Hematology
Issue number2
StatePublished - Apr 2017


  • Down syndrome
  • Leukemia predisposition
  • RASopathies


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