title: Lack of nucleophosmin mutation in patients with myelodysplastic syndrome and acute myeloid leukemia with chromosome 5 abnormalities.
abstract: Nucleophosmin (NPM1) gene exon 12 mutations are frequently present in patients with acute myeloid leukemia (AML) with normal karyotype. The NPM1 gene is located on chromosome 5q35, which is often affected in myeloid malignancies including myelodysplastic syndrome (MDS). This suggests that the NPM1 gene is a one of the target genes affected by chromosome 5 abnormalities and play a role in the development of MDS. It has not been clarified whether MPM1 mutations are present in patients with MDS and AML with chromosome 5 abnormalities. Therefore, we carried out a mutational analysis on the NPM1 gene exon 12. NPM1 mutations were not detected in the 28 patients with MDS and AML with chromosome 5 abnormalities.
authors.affiliation: Department of Hematology, Tokyo Women's Medical University, Tokyo, Japan. shisekim@dh.twmu.ac.jp
authors.forename: Masayuki
authors.initials: M
authors.lastname: Shiseki
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kitagawa
authors.forename: Yan-Hua
authors.initials: YH
authors.lastname: Wang
authors.forename: Kentaro
authors.initials: K
authors.lastname: Yoshinaga
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Kondo
authors.forename: Hanae
authors.initials: H
authors.lastname: Kuroiwa
authors.forename: Michiko
authors.initials: M
authors.lastname: Okada
authors.forename: Naoki
authors.initials: N
authors.lastname: Mori
authors.forename: Toshiko
authors.initials: T
authors.lastname: Motoji
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D002895:Chromosomes, Human, Pair 5; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin
chemical_list: C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin