Human Gene Set: ALCALAY_AML_BY_NPM1_LOCALIZATION_DN


Standard name ALCALAY_AML_BY_NPM1_LOCALIZATION_DN
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
      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
Exact source Table S2: DECREASED EXPRESSION IN NPMc+ LEUKEMIAS
Related gene sets (show 1 additional gene sets from the source publication)

(show 20 gene sets from any of these authors)
External links
Filtered by similarity ?
Source species Homo sapiens
Contributed by Kevin Vogelsang (MSigDB Team)
Source platform or
identifier namespace		 AFFY_HG_U133
Dataset references  
Download gene set format: grp | gmt | xml | json | TSV metadata
Compute overlaps ? (show collections to investigate for overlap with this gene set)
Compendia expression profiles ? NG-CHM interactive heatmaps
(Please note that clustering takes a few seconds)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)

Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 185 genes
Gene families ? Categorize these 185 genes by gene family
Show members (show 211 source identifiers mapped to 185 genes)
Version history 3.0: Renamed from ALCALAY_AML_NPMC_DN


Creative Commons Attribution 4.0 International License (CC-BY-4.0)

The contents of this gene set are protected by copyright (c) 2004-2026 Broad Institute, Inc., Massachusetts Institute of Technology, and Regents of the University of California, subject to the terms and conditions of the Creative Commons Attribution 4.0 International License.

See the full MSigDB license terms here.