Multiple novel alterations in Kit tyrosine kinase in patients with gastrointestinally pronounced systemic mast cell activation disorder
Abstract
OBJECTIVE: Sequencing efforts to discover mutations in the tyrosine kinase Kit related to systemic mast cell disorders have so far been focused mainly on only a few of the 21 exons of the encoding gene c-kit, thus considerably limiting the possibility to quantitatively reveal pathogenetic relationships. The purpose of this study was to analyze and compare the total sequence of Kit tyrosine kinase at the level of the mRNAs obtained from patients with clear systemic signs of a pathologically increased mast cell mediator release and those from healthy volunteers. MATERIAL AND METHODS: Kit encoding mRNA isolated from mast cell progenitors in peripheral blood from 17 patients with a mast cell activation disorder and from 5 healthy volunteers as well as from the human mast cell leukemia cell line HMC1 was analyzed for alterations. RESULTS: Multiple novel point mutations and six isoforms of Kit which are due to alternative mRNA splicing were detected. One isoform, the insertion of a glutamine residue at amino acid position 252, was found to be a new splice variant expressed in all patients but in none of the healthy volunteers. CONCLUSIONS: Systemic mast cell activation disorder was pathogenetically characterized by two or more alterations in the Kit tyrosine kinase providing not only a means of confirming the diagnosis, but also of assessing prognosis and of starting adequate therapeutic interventions. The insertion of Q252 appears to be pathognomic for that disease, providing a novel means for the identification of chronic non-specific gastrointestinal symptoms as manifestations of a systemic mast cell activation disorder.
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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 [15]
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Afrin, L. B. (2010) · International Journal of Hematology · doi:10.1007/s12185-010-0605-x · Cited by 12 · see citing works
Presentation, diagnosis, and management of mast cell activation syndrome
Afrin, L. B. (2013) · Cited by 12 · see citing works
Özer, Ö., Zhao, Y. D., Ostler, K. R., Akin, C., Anastasi, J., Vardiman, J. W., & Godley, L. A. (2008) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428190802140865 · Cited by 12 · see citing works
Cardiovascular symptoms in patients with systemic mast cell activation disease
Kolck, U. W., Haenisch, B., & Molderings, G. J. (2015) · Translational research · doi:10.1016/j.trsl.2015.12.012 · Cited by 10 · see citing works
Self-citationHaenisch, B., Huber, M., Wilhelm, T., Steffens, M., & Molderings, G. J. (2013) · Life Sciences · doi:10.1016/j.lfs.2013.01.010 · Cited by 10 · see citing works
Self-citationDifferential activity of c-KIT splice forms is controlled by extracellular peptide insert length
Phung, B., Steingrı́msson, E., & Rönnstrand, L. (2013) · Cellular Signalling · doi:10.1016/j.cellsig.2013.07.011 · Cited by 10 · see citing works
Pathogenic and diagnostic relevance of KIT in primary mast cell activation disorders
Muñoz‐González, J. I., García‐Montero, A. C., Órfão, A., & Álvarez‐Twöse, I. (2021) · Annals of Allergy Asthma & Immunology · doi:10.1016/j.anai.2021.07.014 · Cited by 9 · see citing works
Prevalence and treatment response of neuropsychiatric disorders in mast cell activation syndrome
Weinstock, L. B., Afrin, L. B., Reiersen, A. M., Brook, J. B., Blitshteyn, S., Ehrlich, G., Schofield, J. R., Kinsella, L. J., Kaufman, D. L., Dempsey, T. T., et al. (2025) · Brain Behavior & Immunity - Health · doi:10.1016/j.bbih.2025.101048 · Cited by 9 · see citing works
Self-citationIntratumor Heterogeneity of KIT Gene Mutations in Acral Lentiginous Melanoma
Comodo, A. N., FERNANDES, M. R., Barcelos, D., Carapeto, F. C. L., Guimarães, D. P., Moraes, L. D. S., Cerutti, J. M., Iwamura, E. S. M., & Landman, G. (2019) · American Journal of Dermatopathology · doi:10.1097/dad.0000000000001475 · Cited by 8 · see citing works
Haenisch, B., Herms, S., & Molderings, G. J. (2013) · Immunologic Research · doi:10.1007/s12026-013-8391-1 · Cited by 7 · see citing works
Self-citationTHE PRESENTATION, DIAGNOSIS AND TREATMENT OF MAST CELL ACTIVATION SYNDROME
Afrin, L. B. (2014) · Cited by 7 · see citing works
Ureteral stones due to systemic mastocytosis: diagnostic and therapeutic characteristics
Molderings, G. J., Solleder, G., Kolck, U. W., Homann, J., Schröder, D., von Kügelgen, I., & VORREUTHER, R. (2009) · Urological Research · doi:10.1007/s00240-009-0198-0 · Cited by 7 · see citing works
Self-citationUtility of glucagon-like-peptide-1-receptor agonists in mast cell activation syndrome
Afrin, L. B., Weinstock, L. B., Dempsey, T. T., Aschenbrenner, K., Blitshteyn, S., & Schofield, J. R. (2025) · The American Journal of the Medical Sciences · doi:10.1016/j.amjms.2025.07.006 · Cited by 6 · see citing works
Progress in mast cell activation syndrome: the global consensus-2 diagnostic criteria at six years
Afrin, L. B., Blitshteyn, S., Bluestein, L. S., Dempsey, T. T., Maxwell, A. J., Miller, C. S., Nagy, È., Nugent, D. J., Schofield, J. R., Weinstock, L. B., et al. (2026) · Diagnosis · doi:10.1515/dx-2026-0016 · Cited by 6 · see citing works
Self-citationNagy, É., Westaway, M., Danieletto, S., & Afrin, L. B. (2024) · Annals of Surgery Open · doi:10.1097/as9.0000000000000398 · Cited by 5 · see citing works
Tamlin, V. S., Bottema, C. D. K., Campbell-Ward, M. L., Hanshaw, D., & Peaston, A. E. (2021) · Veterinary and Comparative Oncology · doi:10.1111/vco.12683 · Cited by 5 · see citing works
Weinstock, L. B., Brook, J. B., & Molderings, G. J. (2022) · Naunyn-Schmiedeberg s Archives of Pharmacology · doi:10.1007/s00210-022-02282-8 · Cited by 4 · see citing works
Self-citationWeinstock, L. B., Tenkhoff, M., Gutovich, J., & Afrin, L. B. (2024) · ACG Case Reports Journal · doi:10.14309/crj.0000000000001383 · Cited by 3 · see citing works
Oetting, W. S. (2008) · Human Mutation · doi:10.1002/humu.20729 · Cited by 3 · see citing works
Learned cautions regarding antibody testing in mast cell activation syndrome
Afrin, L. B., Dempsey, T. T., & Molderings, G. J. (2023) · Diagnosis · doi:10.1515/dx-2023-0032 · Cited by 2 · see citing works
Self-citationVacheron, N., McClinton, T. D., Lynch-Smith, D., & Umberger, R. A. (2020) · Journal of the American Association of Nurse Practitioners · doi:10.1097/jxx.0000000000000396 · Cited by 1 · see citing works
Mast cell activation syndrome — clinical presentation and diagnostic criteria
Boldeanu, E.-S., Avram, M., & Rezmeriţă, L. (2021) · Alergologia · doi:10.26416/aler.5.1.2021.4445 · Cited by 1 · see citing works
Commentary: Condition is often overlooked
Molderings, G. J. (2009) · BMJ · doi:10.1136/bmj.b799 · Cited by 1 · see citing works
Self-citationChen, D., & George, T. I. (2018) · Elsevier eBooks · doi:10.1016/b978-0-323-47913-4.00020-3
Chen, D., & Li, C. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-2606-0.00020-2
Chen, D., & George, T. I. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-10940-9.00021-6
- Authors
- Molderings, G. J., Kolck, U. W., Scheurlen, C., Brüss, M., Homann, J., & Von Kügelgen, I.
- Affiliations
- University Hospital Bonn (DE)
- Corresponding author
- Molderings, Gerhard J.
- Venue
- Scandinavian Journal of Gastroenterology
- Publisher
- Informa UK Limited
- Published
- 2007-01
- Volume
- 42
- Issue
- 9
- Pages
- 1045-1053
- ISSN
- 0036-5521 (ISSN-L)
- 1502-7708
- OpenAlex
- W2130898095
- Cited by
- 73
- References
- 47
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 2 · 2023: 3 · 2022: 4 · 2021: 5 · 2020: 5 · 2019: 2 · 2018: 1 · 2017: 2 · 2016: 5 · 2015: 4 · 2014: 6 · 2013: 7 · 2012: 6
- FWCI
- 1.59
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Scandinavian Journal of Gastroenterology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Deutsche Krebshilfe
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Mast cells and histamine
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal Tumor Research and Treatment
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal motility and disorders
- Keywords
- CD117, KIT tyrosine kinase, mast cell activation, point mutations, alternative mRNA splicing, splice variants, mast cell progenitors, gastrointestinal symptoms, mast cell mediator release, diagnosis and prognosis
- MeSH terms
- Adult, Aged, Female, Gastrointestinal Diseases, Humans, Male, Mastocytosis, Middle Aged, RNA Splicing, Syndrome, Point Mutation, Proto-Oncogene Proteins c-kit
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