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Cited by 58Mast cells and histamineGastrointestinal Tumor Research and TreatmentCongenital gastrointestinal and neural anomalies

Comparative analysis of mutation of tyrosine kinase kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects

Molderings, Gerhard J., Meis, Kirsten, Kolck, Ulrich W., Homann, Jürgen, Frieling, Thomas·2010·Immunogenetics
DOI 10.1007/s00251-010-0474-8
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Abstract

Systemic mast cell activation syndrome is a mast cell disorder characterized by an unregulated increased activation of mast cells leading to a pathologically enhanced release of mediators. Mutations in tyrosine kinase kit which crucially determines mast cell activity have been suggested as a necessary condition for the development of a clinically symptomatic mast cell disease. At the level of mRNA in mast cell progenitor cells of 20 patients with systemic mast cell activation syndrome and of 20 gender- and age-matched healthy volunteers, the tyrosine kinase kit was investigated for genetic alterations by means of RT-PCR and direct sequencing of the amplificates. In mast cells of 13 out of these 20 patients, multiple predominantly novel potential functionally activating point mutations or complex alterations of the mRNA sequence encoding the tyrosine kinase kit were detected. In contrast, in 19 of the 20 healthy subjects, no functionally relevant alterations of c-kit transcripts were detected. The present findings support the idea that the systemic mast cell activation syndrome is a clonal disease most commonly associated with variable activating mutations in the tyrosine kinase kit.

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  • Preliminary research strongly suggests that idiopathic MCAS is almost always driven by one or another somatic mutational profile in KIT and other MC regulatory elements.

    “preliminary research [15][16][17] strongly suggests is almost always driven by one (largely MC-restricted, largely somatic) mutational profile or another among a very large menagerie of such profiles in KIT and other MC regulatory elements”

    From Diagnosis of mast cell activation syndrome: a global "consensus-2" (2021) · cites this paper as [16]

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Authors
Molderings, G. J., Meis, K., Kolck, U. W., Homann, J., & Frieling, T.
Affiliations
  • University Hospital Bonn (DE)
  • Helios Klinikum Krefeld (DE)
Corresponding author
Molderings, Gerhard J.
ORCID
Venue
Immunogenetics
Publisher
Springer Science and Business Media LLC
Published
2010-09-14
Volume
62
Issue
11-12
Pages
721-727
ISSN
  • 0093-7711 (ISSN-L)
  • 1432-1211
DOI
10.1007/s00251-010-0474-8
OpenAlex
W1994726551
Cited by
58
References
37
Citations by year
2026: 1 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 2 · 2021: 8 · 2020: 2 · 2019: 1 · 2018: 3 · 2017: 2 · 2016: 5 · 2015: 5 · 2014: 7 · 2013: 5 · 2012: 8
FWCI
2.59
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Immunogenetics (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • Deutsche Krebshilfe
  • Novartis Pharmaceuticals UK Limited
Topics
  • Life Sciences › Immunology and Microbiology › Immunology › Mast cells and histamine
  • Health Sciences › Medicine › Gastroenterology › Gastrointestinal Tumor Research and Treatment
  • Health Sciences › Medicine › Surgery › Congenital gastrointestinal and neural anomalies
Keywords
CD117, tyrosine kinase mutations, mast cells, mast cell activation, clonal disease, activating mutations, mast cell mediators
MeSH terms
Adult, DNA Mutational Analysis, Female, Humans, Male, Mastocytosis, Middle Aged, Mutation, Case-Control Studies, Proto-Oncogene Proteins c-kit, Young Adult

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