title: NPM1 mutations and cytoplasmic nucleophosmin are mutually exclusive of recurrent genetic abnormalities: a comparative analysis of 2562 patients with acute myeloid leukemia.
abstract: Acute myeloid leukemia carrying NPM1 mutations and cytoplasmic nucleophosmin (NPMc(+) acute myeloid leukemia) represents one-third of adult AML (50-60% of all acute myeloid leukemia with normal karyotype) and shows distinct biological, pathological and clinical features. We confirm in 2562 patients with acute myeloid leukemia our previous observation that NPM1 mutations and cytoplasmic nucleophosmin are mutually exclusive of recurrent genetic abnormalities. Taken together, these findings make NPMc+ acute myeloid leukemia a good candidate for inclusion in the upcoming World Health Organization classification.
authors.affiliation: Institute of Hematology, University of Perugia, Perugia, Italy. faliniem@unipg.it
authors.forename: Brunangelo
authors.initials: B
authors.lastname: Falini
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Saglio
authors.forename: Francesco
authors.initials: F
authors.lastname: Lo Coco
authors.forename: Daniela
authors.initials: D
authors.lastname: Diverio
authors.forename: Patrick
authors.initials: P
authors.lastname: Brown
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Pane
authors.forename: Marco
authors.initials: M
authors.lastname: Mancini
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Martelli
authors.forename: Stefano
authors.initials: S
authors.lastname: Pileri
authors.forename: Torsten
authors.initials: T
authors.lastname: Haferlach
authors.forename: Claudia
authors.initials: C
authors.lastname: Haferlach
authors.forename: Susanne
authors.initials: S
authors.lastname: Schnittger
mesh_terms: D000208:Acute Disease; D001853:Bone Marrow / Q000473:pathology; D002467:Cell Nucleus / Q000737:chemistry; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D015331:Cohort Studies; D003593:Cytoplasm / Q000737:chemistry*; D004252:DNA Mutational Analysis; D005858:Germany / Q000453:epidemiology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007951:Leukemia, Myeloid / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D009687:Nuclear Proteins / Q000032:analysis / Q000235:genetics*; D000090243:Nucleophosmin; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D000090243:Nucleophosmin