Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (871 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A rare neoplastic disorder characterized by a clonal proliferation of mast cells, associated with kit-d816 mutations, and accompanied by aberrant mast cell activation. The abnormal increase of mast cells may occur in only the skin (mastocytosis, cutaneous), in extracutaneous tissues involving multiple organs (mastocytosis, systemic), or in solid tumors (mastocytoma).
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Where it fits in the MeSH classification
- Broader topics
- Neoplasms, Connective Tissue; Mast Cell Activation Disorders
- Narrower topics
- Mast-Cell Sarcoma; Mastocytoma; Mastocytosis, Cutaneous; Mastocytosis, Systemic
Related concepts
- Mast Cells
- Kit-D816
- Mastocytosis
- Cutaneous
- Systemic
- Mastocytoma
Research landscape
PubMed indexes 7,305 records tagged with the MeSH heading “Mastocytosis” (counts retrieved 2026-10-29). 939 of them (12.9%) were published from 2020 onward, and the busiest period so far is through 1999 with 3,443 records.
Reviews account for 981 records (13.4%) and meta-analyses for 6. Randomized controlled trials number 21 (0.3%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 3,443 |
| 2000-2009 | 1,229 |
| 2010-2019 | 1,694 |
| 2020 onward | 939 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 981 | 13.4% |
| Meta-analyses | 6 | 0.1% |
| Randomized controlled trials | 21 | 0.3% |
Method: PubMed query "Mastocytosis"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in cancer and oncology
Cancer research spans very different kinds of evidence. Laboratory studies in cell lines and animal models reveal mechanisms but often do not translate to patients. Early-phase trials mainly test safety and dosing, while phase 3 randomized trials and their meta-analyses are the usual basis for treatment conclusions. Outcomes also differ in meaning: tumour shrinkage, progression-free survival and overall survival are not interchangeable, and screening studies can be distorted by lead-time and overdiagnosis. When reading a result, check the cancer type and stage studied, the comparison treatment, and which outcome was measured.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Mast cells as a unique hematopoietic lineage and cell system: From Paul Ehrlich's visions to precision medicine concepts | 2020 | Review article Design not recorded in structured metadata | 147 | cc by PMID 32929378 · DOI · PMC7482799 |
| Safety and efficacy of avapritinib in advanced systemic mastocytosis: the phase 1 EXPLORER trial | 2021 | Research article Design not recorded in structured metadata | 133 | cc by PMID 34873347 · DOI · PMC8674134 |
| Efficacy and safety of avapritinib in advanced systemic mastocytosis: interim analysis of the phase 2 PATHFINDER trial | 2021 | Research article Design not recorded in structured metadata | 125 | cc by PMID 34873345 · DOI · PMC8674139 |
| Efficacy and safety evaluation of gilvetmab in dogs with melanoma and mast cell tumor | 2026 | Research article Design not recorded in structured metadata | 3 | cc by PMID 42247661 · DOI · PMC13240851 |
Mast cells as a unique hematopoietic lineage and cell system: From Paul Ehrlich's visions to precision medicine concepts [1]
Abstract reading summary — source excerpts
- Opening excerpt
- The origin and functions of mast cells (MCs) have been debated since their description by Paul Ehrlich in 1879.
- Closing excerpt
- We also discuss new concepts for suppressing MC expansion and/or activation using molecularly-targeted drugs.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (229 words)
The origin and functions of mast cells (MCs) have been debated since their description by Paul Ehrlich in 1879. MCs have long been considered 'reactive bystanders' and 'amplifiers' in inflammatory processes, allergic reactions, and host responses to infectious diseases. However, knowledge about the origin, phenotypes and functions of MCs has increased substantially over the past 50 years. MCs are now known to be derived from multipotent hematopoietic progenitors, which, through a process of differentiation and maturation, form a unique hematopoietic lineage residing in multiple organs. In particular, MCs are distinguishable from basophils and other hematopoietic cells by their unique phenotype, origin(s), and spectrum of functions, both in innate and adaptive immune responses and in other settings. The concept of a unique MC lineage is further supported by the development of a distinct group of neoplasms, collectively referred to as mastocytosis, in which MC precursors expand as clonal cells. The clinical consequences of the expansion and/or activation of MCs are best established in mastocytosis and in allergic inflammation. However, MCs have also been implicated as important participants in a number of additional pathologic conditions and physiological processes. In this article, we review concepts regarding MC development, factors controlling MC expansion and activation, and some of the fundamental roles MCs may play in both health and disease. We also discuss new concepts for suppressing MC expansion and/or activation using molecularly-targeted drugs.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 32929378 · DOI · PMC7482799
Safety and efficacy of avapritinib in advanced systemic mastocytosis: the phase 1 EXPLORER trial [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Advanced systemic mastocytosis (AdvSM) is a rare hematologic neoplasm driven by the KIT D816V mutation and associated with poor survival.
- Closing excerpt
- Avapritinib induced deep and durable responses, including molecular remission of KIT D816V in patients with AdvSM, and was well tolerated at the recommended phase 2 dose of 200 mg daily.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (205 words)
Advanced systemic mastocytosis (AdvSM) is a rare hematologic neoplasm driven by the KIT D816V mutation and associated with poor survival. This phase 1 study ( NCT02561988 ) evaluated avapritinib (BLU-285), a selective KIT D816V inhibitor, in patients with AdvSM. The primary endpoints were the maximum tolerated dose, recommended phase 2 dose and safety of avapritinib. Secondary endpoints included overall response rate and changes in measures of mast cell burden. Avapritinib was evaluated at doses of 30-400 mg once daily in 86 patients, 69 with centrally confirmed AdvSM. Maximum tolerated dose was not reached, and 200 mg and 300 mg daily were studied in dose-expansion cohorts. The most frequent adverse events observed were periorbital edema (69%), anemia (55%), diarrhea (45%), thrombocytopenia (44%) and nausea (44%). Intracranial bleeding occurred in 13% overall, but in only 1% of patients without severe thrombocytopenia (platelets 9/l). In 53 response-evaluable patients, the overall response rate was 75%. The complete remission rate was 36%. Avapritinib elicited ≥50% reductions in marrow mast cells and serum tryptase in 92% and 99% of patients, respectively. Avapritinib induced deep and durable responses, including molecular remission of KIT D816V in patients with AdvSM, and was well tolerated at the recommended phase 2 dose of 200 mg daily.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 34873347 · DOI · PMC8674134
Efficacy and safety of avapritinib in advanced systemic mastocytosis: interim analysis of the phase 2 PATHFINDER trial [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Advanced systemic mastocytosis (AdvSM) is a rare, KIT D816V-driven hematologic neoplasm characterized by mast cell infiltration and shortened survival.
- Closing excerpt
- Avapritinib demonstrated a high rate of clinical, morphological and molecular responses and was generally well tolerated in patients with AdvSM.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (209 words)
Advanced systemic mastocytosis (AdvSM) is a rare, KIT D816V-driven hematologic neoplasm characterized by mast cell infiltration and shortened survival. We report the results of a prespecified interim analysis of an ongoing pivotal single-arm phase 2 trial (no. NCT03580655 ) of avapritinib, a potent, selective KIT D816V inhibitor administered primarily at a once-daily starting dose of 200 mg in patients with AdvSM (n = 62). The primary endpoint was overall response rate (ORR). Secondary endpoints included mean baseline change in AdvSM-Symptom Assessment Form Total Symptom Score and quality of life, time to response, duration of response, progression-free survival, overall survival, changes in measures of disease burden and safety. The primary endpoint was successfully met (P = 1.6 × 10-9), with an ORR of 75% (95% confidence interval 57-89) in 32 response-evaluable patients with AdvSM who had sufficient follow-up for response assessment, including 19% with complete remission with full or partial hematologic recovery. Reductions of ≥50% from baseline in serum tryptase (93%), bone marrow mast cells (88%) and KIT D816V variant allele fraction (60%) were observed. The most frequent grade ≥3 adverse events were neutropenia (24%), thrombocytopenia (16%) and anemia (16%). Avapritinib demonstrated a high rate of clinical, morphological and molecular responses and was generally well tolerated in patients with AdvSM.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 34873345 · DOI · PMC8674139
Efficacy and safety evaluation of gilvetmab in dogs with melanoma and mast cell tumor [4]
Abstract reading summary — source excerpts
- Opening excerpt
- BackgroundImmune checkpoint inhibitors (ICIs) have transformed oncology in human medicine, providing clinical benefit in a broad spectrum of cancers.
- Closing excerpt
- Conclusions and clinical importanceGilvetmab has a reasonable expectation of efficacy and an acceptable preliminary safety profile in dogs with MCT stages I-III and melanoma stages II and III.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (228 words)
BackgroundImmune checkpoint inhibitors (ICIs) have transformed oncology in human medicine, providing clinical benefit in a broad spectrum of cancers. Widely available ICIs for dogs are lacking.Hypothesis/objectivesEvaluate efficacy and safety of gilvetmab, a caninized anti-PD-1 monoclonal antibody.AnimalsFifty-one client-owned dogs were evaluated, 25 with stages II-III melanoma and 26 with stages I-III mast cell tumor (MCT). Fifteen dogs with stages III-V lymphoma were also evaluated.MethodsMulti-institutional, open-label study. Enrolled dogs were treated with gilvetmab IV at 6 mg/kg q28d or 10 mg/kg q14d; 8 dogs receiving the lower dosage underwent dose escalation with their owners' consent. Safety was evaluated by physical examinations, laboratory testing, and clinical observations made by veterinarians or the dogs' owners. Efficacy was assessed by objective response rate (ORR) and time to progression (TTP) using cRECIST v1.0 and lymphoma response criteria.ResultsFor melanoma, the ORR was 20% (95% confidence interval [CI], 7%-41%) and median TTP was 56 days. For MCT, the ORR was 46% (95% CI, 27%-67%) and median TTP was not reached. No objective responses were observed in dogs with lymphoma. Serious adverse events of anaphylaxis, hypotension, or tumor hemorrhage occurred in 3 dogs (3/51, 5.9%). Tumor enlargement before regression, consistent with possible pseudoprogression, was observed in 2 dogs with melanoma.Conclusions and clinical importanceGilvetmab has a reasonable expectation of efficacy and an acceptable preliminary safety profile in dogs with MCT stages I-III and melanoma stages II and III.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42247661 · DOI · PMC13240851
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal [5]
- Research article Mast Cells, Mastocytosis, and Related Disorders [6]
- Research article Cutaneous manifestations in patients with mastocytosis: Consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology [7]
- Research article Anaphylaxis: A 2023 practice parameter update [8]
- Research article KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis [9]
- Research article Mast cells signal their importance in health and disease [10]
References
- Valent P, Akin C, Hartmann K, Nilsson G, Reiter A, Hermine O, et al.. Mast cells as a unique hematopoietic lineage and cell system: From Paul Ehrlich's visions to precision medicine concepts. . 2020. PMID 32929378 · DOI · PMC7482799
- DeAngelo DJ, Radia DH, George TI, Robinson WA, Quiery AT, Drummond MW, et al.. Safety and efficacy of avapritinib in advanced systemic mastocytosis: the phase 1 EXPLORER trial. . 2021. PMID 34873347 · DOI · PMC8674134
- Gotlib J, Reiter A, Radia DH, Deininger MW, George TI, Panse J, et al.. Efficacy and safety of avapritinib in advanced systemic mastocytosis: interim analysis of the phase 2 PATHFINDER trial. . 2021. PMID 34873345 · DOI · PMC8674139
- Chon E, Morsey M, Katz T, Yamada K, Bailey D, Bergman PJ, et al.. Efficacy and safety evaluation of gilvetmab in dogs with melanoma and mast cell tumor. . 2026. PMID 42247661 · DOI · PMC13240851
- Valent P, Akin C, Arock M, Brockow K, Butterfield JH, Carter MC, et al.. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol. 2012. PMID 22041891 · DOI · PMC3224511
- Theoharides TC, Valent P, Akin C. Mast Cells, Mastocytosis, and Related Disorders. N Engl J Med. 2015. PMID 26154789 · DOI
- Hartmann K, Escribano L, Grattan C, Brockow K, Carter MC, Alvarez-Twose I, et al.. Cutaneous manifestations in patients with mastocytosis: Consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology. J Allergy Clin Immunol. 2016. PMID 26476479 · DOI
- Golden DBK, Wang J, Waserman S, Akin C, Campbell RL, Ellis AK, et al.. Anaphylaxis: A 2023 practice parameter update. Ann Allergy Asthma Immunol. 2024. PMID 38108678 · DOI
- Arock M, Sotlar K, Akin C, Broesby-Olsen S, Hoermann G, Escribano L, et al.. KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis. Leukemia. 2015. PMID 25650093 · DOI · PMC4522520
- Olivera A, Beaven MA, Metcalfe DD. Mast cells signal their importance in health and disease. J Allergy Clin Immunol. 2018. PMID 29454835 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.