title: Genetic aberrations in the development and subsequent progression of myelodysplastic syndrome.
abstract: We performed longitudinal analyses of chromosomes and studied the configuration of NRAS, TP53, NF1, and cFMS genes in 70 patients with myelodysplastic syndrome(MDS). The NRAS mutations were detected in 6 patients(9%) at codons 12 or 13. The TP53 mutations were found in 10 patients(14%) in exons 4 through 8. Longitudinal studies revealed that the NRAS mutation was a late-appearing event, while the TP53 mutations were detectable at the presentation of MDS. No patients had both NRAS and TP53 mutations, simultaneously. NF1 and cFMS genes showed any mutational event among these 70 patients. Patients with a TP53 mutation had a significantly shorter survival time than those with an NRAS mutation or those without NRAS or TP53 mutation. However, patients who showed an NRAS mutation had a shorter survival time once the mutation emerged, similar to that of patients with a TP53 mutation.
authors.affiliation: Third Department of Medicine, Kyoto Prefectural University of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Misawa
authors.forename: S
authors.initials: S
authors.lastname: Horiike
authors.forename: H
authors.initials: H
authors.lastname: Kaneko
authors.forename: K
authors.initials: K
authors.lastname: Kashima
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001853:Bone Marrow / Q000473:pathology; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D018450:Disease Progression; D005091:Exons; D005260:Female; D016514:Genes, Neurofibromatosis 1; D016236:Genes, fms; D016158:Genes, p53; D011905:Genes, ras; D006801:Humans; D007621:Karyotyping; D007938:Leukemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D017354:Point Mutation; D011379:Prognosis; D016019:Survival Analysis