Article

Immunologic Research

, Volume 56, Issue 1, pp 155-162

First online:

The transcriptome of the human mast cell leukemia cells HMC-1.2: an approach to identify specific changes in the gene expression profile in KitD816V systemic mastocytosis

  • B. HaenischAffiliated withInstitute of Human Genetics, University of BonnDepartment of Genomics, Life and Brain Center, University of BonnGerman Center for Neurodegenerative Diseases (DZNE)Federal Institute for Drugs and Medical Devices (BfArM)Department of Psychiatry, University of Bonn
  • , S. HermsAffiliated withInstitute of Human Genetics, University of BonnDepartment of Genomics, Life and Brain Center, University of BonnDivision of Medical Genetics, University Hospital BaselDepartment of Biomedicine, University of Basel
  • , G. J. MolderingsAffiliated withInstitute of Human Genetics, University of Bonn Email author 

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Abstract

To circumvent the costly isolation procedure associated with tissue mast cells, human mast cell lines such as HMC-1 are employed in mastocytosis research, but their relation to mutated mast cells in systemic mastocytosis has not been investigated systematically. In the present study, we determined the transcriptome of HMC-1.2 cells and compared the expression data with those reported in the literature for normal human resting lung and tonsillar mast cells as well as leukocytes from peripheral blood and mononuclear cells from bone marrow aspirates of patients with D816 V-positive systemic mastocytosis. Our results suggest that HMC-1.2 cells are an appropriate model for the investigation of this variant of systemic mast cell activation disease. The data confirm previous suggestions that the pathologically increased activity of mast cells in patients with D816 V-positive systemic mastocytosis can be deduced from the detection of mutation-related changes in the gene expression profile in leukocytes from peripheral blood and in mononuclear cells from bone marrow aspirates. Thus, mutation-related changes of the expression profile can serve as surrogates (besides clustering of mast cells, expression of CD25, and increased release of tryptase) for the presence of the mutation D816 V in tyrosine kinase Kit in patients with systemic mastocytosis according to the WHO criteria. Whether this also holds true for systemic mast cell activation disease caused by other mutations in Kit or other mast cell activity-related genes is a subject for future studies.

Keywords

HMC-1 cells Systemic mast cell activation disease Systemic mastocytosis Tyrosine kinase Kit KitD816V