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1. NPM1 mutations and cytoplasmic nucleophosmin are mutually exclusive of recurrent genetic abnormalities: a comparative analysis of 2562 patients with acute myeloid leukemia.

Author

Falini B, Mecucci C, Saglio G, Lo Coco F, Diverio D, Brown P, Pane F, Mancini M, Martelli MP, Pileri S, Haferlach T, Haferlach C, and Schnittger S

Subjects
Acute Disease, Bone Marrow pathology, Cell Nucleus chemistry, Chromosome Aberrations, Chromosome Inversion, Cohort Studies, DNA Mutational Analysis, Germany epidemiology, Humans, In Situ Hybridization, Fluorescence, Leukemia, Myeloid classification, Leukemia, Myeloid epidemiology, Nuclear Proteins analysis, Nucleophosmin, Oncogene Proteins, Fusion genetics, Reverse Transcriptase Polymerase Chain Reaction, Translocation, Genetic, Cytoplasm chemistry, Leukemia, Myeloid genetics, Nuclear Proteins genetics
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.

Published
2008
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