Severe congenital neutropenia terminating in acute myeloid leukemia: disease progression associated with mutations in the granulocyte-colony stimulating factor receptor gene

Leuk Res. 1996 Aug;20(8):629-31. doi: 10.1016/0145-2126(96)00017-3.


Severe congenital neutropenia (SCN) is a heterogeneous disease condition with a variable family history and a propensity to progress towards myelodysplastic syndrome (MDS) and acute myeloblastic leukemia (AML). In a subgroup of patients, point mutations in the G-CSF-R gene have been found. These nonsense mutations result in the truncation of the C-terminal cytoplasmic region, a subdomain that is crucial for G-CSF induced maturation. SCN patients with mutations in the G-CSF-R gene appear to be predisposed to develop AML. Here, we recapitulate our view of how defective G-CSF-R may contribute to neutropenia and leukemogenesis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acute Disease
  • Disease Progression
  • Granulocyte Colony-Stimulating Factor / therapeutic use
  • Humans
  • Leukemia, Myeloid / genetics*
  • Neutropenia / congenital*
  • Neutropenia / genetics*
  • Neutropenia / therapy
  • Point Mutation*
  • Preleukemia / genetics
  • Receptors, Granulocyte Colony-Stimulating Factor / genetics*


  • Receptors, Granulocyte Colony-Stimulating Factor
  • Granulocyte Colony-Stimulating Factor