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

@article{Touw1996SevereCN,
  title={Severe congenital neutropenia terminating in acute myeloid leukemia: disease progression associated with mutations in the granulocyte-colony stimulating factor receptor gene.},
  author={Ivo P. Touw and Fan Dong},
  journal={Leukemia research},
  year={1996},
  volume={20 8},
  pages={629-31}
}
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… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 15 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 21 references

Mutations truncating the C-terminal maturation region of the G-CSF receptor in acute myeloid leukemia preceded by severe congenital neutropenia

  • F. Dong, R K.Brynes, N. Tidow, K. Welte, B. Liiwenberg, I P.Touw
  • N. Engl. J. Med
  • 1995
1 Excerpt

Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia

  • F. Dong, L H.Hoefsloot, +5 authors B. Liiwenberg
  • Proc. natn. Acad. Sci. USA
  • 1994
1 Excerpt

Use of filgrastim (r-metHuG-CSF) in severe chronic neutropenia

  • D C.Dale, M. Davis, M E.Vincent
  • Filgrastin in Clinical Practice (
  • 1994

Similar Papers

Loading similar papers…