title: C-terminal nucleophosmin mutations are uncommon in chronic myeloid disorders.
abstract: C-terminal somatic mutations in nucleophosmin (NPM), a nucleolar shuttling protein that binds p53 and p19(Arf), were recently described in karyotypically normal acute myeloid leukaemia (AML). We analysed primary marrow samples from 150 patients with various chronic myeloid disorders for mutations in the NPM1 gene encoding NPM. NPM1 mutations (tetranucleotide duplication) were detected in three patients, all of whom had chronic myelomonocytic leukaemia (CMML) and a short (<1 year) survival, with rapid progression to overt AML. All other patients were NPM1-wild type in the region analysed. In conclusion, C-terminal NPM mutations are uncommon in chronic myeloid neoplasia, but if present may represent an evolving leukaemic clone.
authors.affiliation: Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA.
authors.forename: Jonathan S C
authors.initials: JS
authors.lastname: Caudill
authors.forename: Alexander J
authors.initials: AJ
authors.lastname: Sternberg
authors.forename: Chin-Yang
authors.initials: CY
authors.lastname: Li
authors.forename: Ayalew
authors.initials: A
authors.lastname: Tefferi
authors.forename: Terra L
authors.initials: TL
authors.lastname: Lasho
authors.forename: David P
authors.initials: DP
authors.lastname: Steensma
mesh_terms: D001483:Base Sequence; D001855:Bone Marrow Diseases / Q000235:genetics*; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002908:Chronic Disease; D004252:DNA Mutational Analysis / Q000379:methods; D004273:DNA, Neoplasm / Q000235:genetics; D018450:Disease Progression; D006801:Humans; D015477:Leukemia, Myelomonocytic, Chronic / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics; D009196:Myeloproliferative Disorders / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D011379:Prognosis
chemical_list: D004273:DNA, Neoplasm; C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin