ArticleThe Journal of allergy and clinical immunology2014
Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype.
Article in The Journal of allergy and clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00044122 (Regulation of the Proliferation and Survival of Normal and Neoplastic Human Mast Cells), which is not on this map. Cited by 21 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Regulation of the Proliferation and Survival of Normal and Neoplastic Human Mast Cells
Who cites it
21 citing papers in PubMed, 46 citations in OpenAlex.
- Impact of Molecular Evaluations in the Biology, Diagnosis, and Prognostication of Patients With Mastocytosis.The journal of allergy and clinical immunology. In practice · 2026Review
- Well-differentiated systemic mastocytosis: Genetics, mast cell immunophenotypes, and KIT autophosphorylation.The Journal of allergy and clinical immunology · 2025Article
- The evaluation, management, and future of indolent systemic mastocytosis.Annals of hematology · 2025Review
- Mastocytosis.Nature reviews. Disease primers · 2025Review
- Poor Applicability of Currently Available Prognostic Scoring Systems for Prediction of Outcome inCancers · 2024Article
- Diffuse Cutaneous Mastocytosis: A Current Understanding of a Rare Disease.International journal of molecular sciences · 2024Review
- Systemic Mastocytosis and Other Entities Involving Mast Cells: A Practical Review and Update.Cancers · 2022Review
- Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021.International journal of molecular sciences · 2021Review
- Pediatric Mastocytosis: Recognition and Management.American journal of clinical dermatology · 2021Review
- Bone Marrow Mast Cell Antibody-Targetable Cell Surface Protein Expression Profiles in Systemic Mastocytosis.International journal of molecular sciences · 2019Article
- Recent advances in the understanding and therapeutic management of mastocytosis.F1000Research · 2019Review
- Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis.Clinical case reports · 2018Article
- Imatinib in systemic mastocytosis: a phase IV clinical trial in patients lacking exon 17Oncotarget · 2017Article
- An optimized protocol for the generation and functional analysis of human mast cells from CD34Journal of immunological methods · 2017Article
- Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future.Cancer research · 2017Review
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- Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis.Cell & bioscience · 2016Review
- Syndromic gastrointestinal stromal tumors.Hereditary cancer in clinical practice · 2016Review
- Chronic mast cell leukemia: a novel leukemia-variant with distinct morphological and clinical features.Leukemia research · 2015Review
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundMastocytosis associated with germline KIT activating mutations is exceedingly rare. We report the unique clinicopathologic features of a patient with systemic mastocytosis caused by a de novo germline KIT K509I mutation.
objectivesWe sought to investigate the effect of the germline KIT K509I mutation on human mast cell development and function.
methodsPrimary human mast cells derived from CD34(+) peripheral blood progenitors were examined for growth, development, survival, and IgE-mediated activation. In addition, a mast cell transduction system that stably expressed the KIT K509I mutation was established.
resultsKIT K509I biopsied mast cells were round, CD25(-), and well differentiated. KIT K509I progenitors cultured in stem cell factor (SCF) demonstrated a 10-fold expansion compared with progenitors from healthy subjects and developed into mature hypergranular mast cells with enhanced antigen-mediated degranulation. KIT K509I progenitors cultured in the absence of SCF survived but lacked expansion and developed into hypogranular mast cells. A KIT K509I mast cell transduction system revealed SCF-independent survival to be reliant on the preferential splicing of KIT at the adjacent exonic junction.
conclusionGermline KIT mutations associated with mastocytosis drive a well-differentiated mast cell phenotype distinct to that of somatic KIT D816V disease, the oncogenic potential of which might be influenced by SCF and selective KIT splicing.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.