title: A case of refractory anaemia with p53 point mutation at codon 249 (AGG to ATG).
abstract: Although mutations of the p53 tumour-suppressor gene have been observed occasionally in the advanced stages of myelodysplastic syndromes (MDS), they have not been detected in early refractory anaemia (RA) or RA with ring sideroblasts phases. Using single-strand conformation polymorphism analysis and direct sequencing, we searched for p53 mutations in a patient who progressed from RA to overt leukaemia. A p53 mutation at codon 249 (AGG to ATG) was observed in RA, RA with excess of blasts in transformation and overt leukaemia. We describe a case of MDS with p53 mutation at codon 249 detected in the RA phase.
authors.affiliation: Department of Haematology, Tokyo Metropolitan Geriatric Hospital, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kikukawa
authors.forename: N
authors.initials: N
authors.lastname: Aoki
authors.forename: M
authors.initials: M
authors.lastname: Mori
mesh_terms: D000368:Aged; D000753:Anemia, Refractory / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D009190:Myelodysplastic Syndromes / Q000235:genetics; D017354:Point Mutation; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D016159:Tumor Suppressor Protein p53