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Mast Cell Disorders: From Molecular Mechanisms to Therapeutic Approaches
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Mast Cell Disorders: From Molecular Mechanisms to Therapeutic Approaches

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 31 August 2025 | Viewed by 2474

Special Issue Editors

Prof. Dr. Ehud Razin

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Guest Editor
Department of Biochemistry and Molecular Biology, Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel
Interests: mast cells; lysyl tRNA synthetase; Nudt2; di-adenosine tetraphosphate; signal transduction; Ap4A hydrolase; Hint1; mast cell activation
Special Issues, Collections and Topics in MDPI journals
Dr. Sagi Tshori

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Guest Editor
1. Research Authority, Kaplan Medical Center, Rehovot 7661041, Israel
2. Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel
Interests: mast cells; lysyl tRNA synthetase; Nudt2; di-adenosine tetraphosphate; cardiac hypertrophy; cardiac amyloidosis; transtherytin; cardiac imaging
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Mast cells are immune cells derived from the myeloid lineage. Mast cell progenitors emerge from the bone marrow, circulate, home to various tissues, and differentiate into mature mast cells. These cells express a high affinity Fc region of the IgE antibody (FcεRI) on their surface and can secrete a plethora of mediators and cytokines. Immediate-type hypersensitivity is the most known mast cell dysfunction.

This Special Issue offers an open access forum for original research articles and reviews that will focus on mast cell disorders other than immediate-type hypersensitivity. Relevant disorders would be primary disorders, i.e, mastocytosis and mast cell activation syndrome (MCAS), and secondary disorders, e.g., infections, inflammatory bowel disease, asthma, tumor neovascularization, and atherosclerosis. Suggested topics include mechanistic insights, diagnostic tools, large-scale epidemiologic data, and therapeutic approaches.

We look forward to receiving your contributions.

Many thanks,

Prof. Dr. Ehud Razin
Dr. Sagi Tshori
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • mastocytosis
  • mast cell activation syndrome
  • mast cell disorders
  • theurapeutic approaches
  • molecular mechanisms
  • tumor neovascularization
  • inflammatory diseases
  • asthma

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Published Papers (3 papers)

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Research

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16 pages, 1233 KiB  
Article
Hereditary α-Tryptasemia and Peripheral Blood KIT D816V Mutation in Patients with Pediatric Mastocytosis
by Olga Tockova, Tanja Planinsek Rucigaj, Simona Ivancan, Urska Bidovec Stojkovic, Matija Rijavec, Julij Šelb and Peter Korošec
Int. J. Mol. Sci. 2025, 26(13), 6023; https://doi.org/10.3390/ijms26136023 - 23 Jun 2025
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Abstract
Hereditary α-tryptasemia (HαT)—a genetic trait caused by increased α-tryptase-encoding typtase alpha/beta-1 (TPSAB1) copy number—is associated with adult mastocytosis. The primary objective was to assess the association between α-tryptase and pediatric mastocytosis. We also want to evaluate whether the KIT p.D816V mutation in peripheral [...] Read more.
Hereditary α-tryptasemia (HαT)—a genetic trait caused by increased α-tryptase-encoding typtase alpha/beta-1 (TPSAB1) copy number—is associated with adult mastocytosis. The primary objective was to assess the association between α-tryptase and pediatric mastocytosis. We also want to evaluate whether the KIT p.D816V mutation in peripheral blood leukocytes (PBLs) reliably predicts systemic mastocytosis (SM) in children. A prospective cohort of 68 children from a referral center in Slovenia with cutaneous mastocytosis (CM) underwent tryptase genotyping by droplet digital PCR and examination for KIT p.D816V in PBL using a sensitive PCR test. A significant majority of patients (57 of 68; [83.8%]) had at least one α-tryptase-encoding gene; none had HαT. 7 of the 68 (10.3%) who were positive for KIT p.D816V in PBL, one fulfilled diagnostic criteria for indolent SM, and another was diagnosed with monoclonal mast cell activation syndrome. One of those individuals had an increased basal serum tryptase (BST) level (14.5 ng/mL). We found a high presence of germline α-tryptase in children with CM, but not HαT. By employing sensitive examination for KIT p.D816V in PBL, in combination with clinical data and other examinations, our study suggests that KIT p.D816V in PBL may indicate systemic disease in children with CM. Full article
(This article belongs to the Special Issue Mast Cell Disorders: From Molecular Mechanisms to Therapeutic Approaches)
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9 pages, 415 KiB  
Article
IL-4, TSLP and IL-31 Cytokine Profiles as Related to Psychometric Measures in Patients with Mastocytosis
by Jan Romantowski, Kinga Fabiańczyk, Maria Skrzypkowska, Wiesław J. Cubała, Piotr Trzonkowski and Marek Niedoszytko
Int. J. Mol. Sci. 2025, 26(2), 529; https://doi.org/10.3390/ijms26020529 - 9 Jan 2025
Cited by 1 | Viewed by 1120
Abstract
Mastocytosis is a rare neoplastic disease of the bone marrow. Common symptoms like urticaria, diarrhea, bronchspasm and flushing are caused by mast cell degranulation and are mostly based on mast cell mediator release and Th2 type inflammation that occurs frequently in these patients. [...] Read more.
Mastocytosis is a rare neoplastic disease of the bone marrow. Common symptoms like urticaria, diarrhea, bronchspasm and flushing are caused by mast cell degranulation and are mostly based on mast cell mediator release and Th2 type inflammation that occurs frequently in these patients. Psychological disorders are more prevalent in patients with systemic mastocytosis, though little is known about the mechanism behind this. The aim of the study was to investigate the Th2 cytokine (IL-4, TSLP, IL-31 and IL-33) profile in patients with mastocytosis in relation to classic degranulation symptoms and the psychometric measures of cognition and distress symptoms.In total, 115 patients diagnosed with mastocytosis were enrolled. Mini-Mental State Examination (MMSE) was performed for all subjects. Other variables: Quality of life in mastocytosis, a mood assessment commonly used in systemic mastocytosis by a certified rater—the Hamilton-17 Depression Scale, Pruritus Visual Analog Score, serum tryptase concentration and bone marrow biopsy results (archival) were also analyzed/included. Serum concentrations of IL-4, TSLP, IL-33 and IL-31 were analyzed as primary outcomes. For comparison with continuous variables linear regression was used. The mean MMSE result was 27.9. Regression analysis did not reveal significant correlation between the IL-4 (p = 0.82), IL-31 (p = 0.24) and TSLP (p = 0.37) serum concentrations and MMSE. The IL-33 concentration analysis resulted in 0 for all patients (was not detected). No significant effect was observed with other endpoints as well. One in four patients with mastocytosis presents cognitive decline. This impairment does not correlate with Il-4, TSLP, nor IL-31 serum protein concentrations. Full article
(This article belongs to the Special Issue Mast Cell Disorders: From Molecular Mechanisms to Therapeutic Approaches)
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Review

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18 pages, 977 KiB  
Review
Indolent Mastocytosis and Bone Health: Molecular Mechanisms and Emerging Treatment Options
by Lucia Jankovski, Matej Rakusa, Andrijana Koceva, Andrej Janež, Peter Kopač and Mojca Jensterle
Int. J. Mol. Sci. 2025, 26(12), 5649; https://doi.org/10.3390/ijms26125649 - 12 Jun 2025
Viewed by 690
Abstract
Mastocytosis is a heterogeneous group of disorders, distinguished by the monoclonal proliferation of mast cells (MCs) in one or more organs. While cutaneous mastocytosis (CM) is restricted to the skin, systemic mastocytosis (SM) presents with high MC infiltration of various organs. Indolent systemic [...] Read more.
Mastocytosis is a heterogeneous group of disorders, distinguished by the monoclonal proliferation of mast cells (MCs) in one or more organs. While cutaneous mastocytosis (CM) is restricted to the skin, systemic mastocytosis (SM) presents with high MC infiltration of various organs. Indolent systemic mastocytosis (ISM) is the most common form in individuals with adult-onset of the disease. Bone health impairment is present in the vast majority of patients, ranging from osteoporosis to osteosclerosis, often presenting with fragility fractures. In this review, we comprehensively examine the impact of ISM on bone health, with particular emphasis on the molecular and cellular mechanisms underlying skeletal involvement, the clinical heterogeneity of bone manifestations, and the limitations of current diagnostic tools, while also evaluating emerging therapeutic strategies that target both MC activity and bone remodeling pathways. Full article
(This article belongs to the Special Issue Mast Cell Disorders: From Molecular Mechanisms to Therapeutic Approaches)
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