title: Gene expression profile, pathways, and transcriptional system regulation in indolent systemic mastocytosis.
abstract: BACKGROUND
  Mastocytosis is an uncommon disease resulting from proliferation of abnormal mast cells infiltrating skin, bone marrow, liver, and other tissues. The aim of this study was to find differences in gene expression in peripheral blood cells of patients with indolent systemic mastocytosis compared to healthy controls. The second aim was to define a specific gene expression profile in patients with mastocytosis.
  
  
  METHODS
  Twenty-two patients with indolent systemic mastocytosis and 43 healthy controls were studied. Whole genome gene expression analysis was performed on RNA samples isolated from the peripheral blood. For amplification and labelling of the RNA, the Illumina TotalPrep 96 RNA Amplification Kit was used. Human HT-12_V3_expression arrays were processed. Data analysis was performed using GeneSpring, Genecodis, and Transcriptional System Regulators.
  
  
  RESULTS
  Comparison of gene expression between patients and controls revealed a significant difference (P < 0.05 corrected for multiple testing) and the fold change difference >2 in gene expression in 2303 of the 48.794 analysed transcripts. Functional annotation indicated that the main pathways in which the differently expressed genes were involved are ubiquitin-mediated proteolysis, MAPK signalling pathway, pathways in cancer, and Jak-STAT signalling. The expression distributions for both groups did not overlap at all, indicating that many genes are highly differentially expressed in both groups.
  
  
  CONCLUSIONS
  We were able to find abnormalities in gene expression in peripheral blood cells of patients with indolent systemic mastocytosis and to construct a gene expression profile which may be useful in clinical practice to predict the presence of mastocytosis and in further research of novel drugs.
authors.affiliation: Department of Allergology Medical University of Gdansk, Debinki 7, Gdansk, Poland. mnied@amg.gda.pl
authors.forename: M
authors.initials: M
authors.lastname: Niedoszytko
authors.forename: J N G
authors.initials: JN
authors.lastname: Oude Elberink
authors.forename: M
authors.initials: M
authors.lastname: Bruinenberg
authors.forename: B
authors.initials: B
authors.lastname: Nedoszytko
authors.forename: J G R
authors.initials: JG
authors.lastname: de Monchy
authors.forename: G J
authors.initials: GJ
authors.lastname: te Meerman
authors.forename: R K
authors.initials: RK
authors.lastname: Weersma
authors.forename: A B
authors.initials: AB
authors.lastname: Mulder
authors.forename: E
authors.initials: E
authors.lastname: Jassem
authors.forename: J J
authors.initials: JJ
authors.lastname: van Doormaal
mesh_terms: D000328:Adult; D000368:Aged; D001773:Blood Cells / Q000378:metabolism; D016022:Case-Control Studies; D005260:Female; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D034721:Mastocytosis, Systemic / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D012333:RNA, Messenger / Q000032:analysis; D015398:Signal Transduction / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D012333:RNA, Messenger