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• W3149166824 abstract "Background. In severe congenital neutrope- nia the maturation of myeloid progenitor cells is arrested. The myelodysplastic syndrome and acute myeloid leuke- mia develop in some patients with severe congenital neu- tropenia. Abnormalities in the signal-transduction path- ways for granulocyte colony-stimulating factor (G-CSF) may play a part in the progression to acute myeloid leu- kemia. Methods. We isolated genomic DNA and RNA from hematopoietic cells obtained from two patients with acute myeloid leukemia and histories of severe congenital neu- tropenia. The nucleotide sequences encoding the cyto- plasmic domain of the G-CSF receptor were amplified by means of the polymerase chain reaction and sequenced. Murine myeloid 32D.C10 cells were transfected with com- plementary DNA encoding the wild-type or mutant G-CSF receptors and tested for their responses to G-CSF. Results. Point mutations in the gene for the G-CSF receptor were identified in both patients. The mutations, a substitution of thymine for cytosine at the codon for glutamine at position 718 (Gln718) in one patient and at the codon for glutamine at position 731 (Gln731) in the other, caused a truncation of the C-terminal cytoplasmic region of the receptor. Both mutant and wild-type genes for the G-CSF receptor were present in leukemic cells from the two patients. In one patient, the mutation was also found in the neutropenic stage, before the progres- sion to acute myeloid leukemia. The 32D.C10 cells ex- pressing mutant receptors had abnormally high prolifera- tive responses but failed to mature when cultured in G-CSF. The mutant G-CSF receptors also interfered with terminal maturation mediated by the wild-type G-CSF re- ceptor in the 32D.C10 cells that coexpressed the wild- type and mutant receptors. Conclusions. Mutations in the gene for the G-CSF re- ceptor that interrupt signals required for the maturation of myeloid cells are involved in the pathogenesis of severe congenital neutropenia and associated with the progres- sion to acute myeloid leukemia. (N Engl J Med 1995;333: 487-93.)" @default.
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• W3149166824 date "2015-01-01" @default.
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• W3149166824 title "MUTATIONS IN THE GENE FOR THE GRANULOCYTE COLONY-STIMULATING-FACTOR RECEPTOR IN PATIENTS WITH ACUTE MYELOID LEUKEMIA PRECEDED BY SEVERE CONGENITAL NEUTROPENIA" @default.
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