title: Mutation of the human FMS gene (M-CSF receptor) in myelodysplastic syndromes and acute myeloid leukemia.
abstract: We studied 41 patients with myelodysplastic syndromes or acute myeloid leukemia to assess the presence of point mutations in the human FMS gene (M-CSF receptor). Using the polymerase chain reaction and hybridization of oligonucleotide probes to the amplified sequences, we have detected mutations in eight of 41 patients, at codons 301 and 969. In vitro work has highlighted mutations at these codons as being oncogenic. We now report the detection of potentially activating mutations of the human FMS gene in vivo. The consequence of these mutations in the multistep pathogenesis of myeloid malignancy and their relevance to prognosis remains to be determined.
authors: Department of Haematological Medicine, King's College Hospital School of Medicine and Dentistry, London, U.K.
authors: K
authors: K
authors: Tobal
authors: A
authors: A
authors: Pagliuca
authors: B
authors: B
authors: Bhatt
authors: N
authors: N
authors: Bailey
authors: D M
authors: DM
authors: Layton
authors: G J
authors: GJ
authors: Mufti
mesh_terms: D000483:Alleles; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D009841:Oligonucleotides / Q000235:genetics; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D016186:Receptor, Macrophage Colony-Stimulating Factor
chemical_list: D003062:Codon; D009841:Oligonucleotides; D011518:Proto-Oncogene Proteins; D016186:Receptor, Macrophage Colony-Stimulating Factor