FMS mutations in myelodysplastic, leukemic, and normal subjects.

作者: S. A. Ridge , M. Worwood , D. Oscier , A. Jacobs , R. A. Padua

DOI: 10.1073/PNAS.87.4.1377

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摘要: Abstract The FMS gene encodes the functional cell surface receptor for colony-stimulating factor 1, macrophage- and monocyte-specific growth factor. Codons 969 301 have been identified as potentially involved in promoting transforming activity of FMS. Mutations at codon are believed to lead neoplastic transformation by ligand independence constitutive tyrosine kinase receptor. The residue has shown be a negative regulatory activity, which is disrupted amino acid substitutions. This study reports on frequency point mutations these codons, vivo, human myeloid malignancies normal subjects. We studied 110 patients [67 with myelodysplasia (MDS) 48 acute myeloblastic leukemia (AML)], 5 being MDS later AML stage disease. There was total incidence 12.7% (14/110) 1.8% (2/110) 301. Two had disease but not preceding one mutation upon AML. consistent somatic origin mutations. were most prevalent (20%) chronic myelomonocytic type M4 (23%), both characterized monocytic differentiation. One 51 subjects constitutional mutation, may represent marker predisposition malignancy.

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