NPM1 mutations and cytoplasmic nucleophosmin are mutually exclusive of recurrent genetic abnormalities: a comparative analysis of 2562 patients with acute myeloid leukemia.
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.
Falini
Brunangelo
B
Institute of Hematology, University of Perugia, Perugia, Italy. faliniem@unipg.it
Mecucci
Cristina
C
Saglio
Giuseppe
G
Lo Coco
Francesco
F
Diverio
Daniela
D
Brown
Patrick
P
Pane
Fabrizio
F
Mancini
Marco
M
Martelli
Maria Paola
MP
Pileri
Stefano
S
Haferlach
Torsten
T
Haferlach
Claudia
C
Schnittger
Susanne
S
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
C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D000090243:Nucleophosmin