In severe congenital neutropenia the maturation of myeloid progenitor cells is arrested. The myelodysplastic syndrome and acute myeloid leukemia develop in some patients with severe congenital neutropenia. Abnormalities in the signal-transduction pathways for granulocyte colony-stimulating factor (G-CSF) may play a part in the progression to acute myeloid leukemia.

doi.org/10.1056/NEJM199508243330804, hdl.handle.net/1765/60338
New England Journal of Medicine
Department of Hematology

Dong, F., Brynes, R. K., Tidow, N., Welte, K., Löwenberg, B., & Touw, I. (1995). Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. New England Journal of Medicine, 333(8), 487–493. doi:10.1056/NEJM199508243330804