Systematic name M19867
Brief description Genes down-regulated in acute myeloid leukemia (AML) with respect to cellular localization of NPM1 [GeneID=4869]: cytoplasmic vs. nucleolar.
Full description or abstract Approximately one third of acute myeloid leukemias (AMLs) are characterized by aberrant cytoplasmic localization of nucleophosmin (NPMc+ AML), consequent to mutations in the NPM putative nucleolar localization signal. These events are mutually exclusive with the major AML-associated chromosomal rearrangements, and are frequently associated with normal karyotype, FLT3 mutations, and multilineage involvement. We report the gene expression profiles of 78 de novo AMLs (72 with normal karyotype; 6 without major chromosomal abnormalities) that were characterized for the subcellular localization and mutation status of NPM. Unsupervised clustering clearly separated NPMc+ from NPMc- AMLs, regardless of the presence of FLT3 mutations or non-major chromosomal rearrangements, supporting the concept that NPMc+ AML represents a distinct entity. The molecular signature of NPMc+ AML includes up-regulation of several genes putatively involved in the maintenance of a stem-cell phenotype, suggesting that NPMc+ AML may derive from a multipotent hematopoietic progenitor.
Collection C2: curated gene sets
      CGP: chemical and genetic perturbations
Source publication Pubmed 15831697   Authors: Alcalay M,Tiacci E,Bergomas R,Bigerna B,Venturini E,Minardi SP,Meani N,Diverio D,Bernard L,Tizzoni L,Volorio S,Luzi L,Colombo E,Lo Coco F,Mecucci C,Falini B,Pelicci PG
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Organism Homo sapiens
Contributed by Kevin Vogelsang (MSigDB Team)
Source platform AFFY_HG_U133
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Version history 3.0: Renamed from ALCALAY_AML_NPMC_DN

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