ArticleProceedings of the National Academy of Sciences of the United States of America1999
Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02761473 (Cutaneous Mastocytosis in Children), which is not on this map. Cited by 120 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations
Who cites it
120 citing papers in PubMed, 554 citations in OpenAlex.
- Lack of clinical efficacy of imatinib in metastatic melanoma.British journal of cancer · 2005Trial
- Systemic Mastocytosis in Adults: 2026 Update on Diagnosis, Risk Stratification and Management.American journal of hematology · 2026Review
- French guidelines for the management of nonadvanced mastocytosis in adults.Orphanet journal of rare diseases · 2025Article
- Detection ofInternational journal of molecular sciences · 2024Review
- Article
- Mastocytosis and Skin Cancer: The Current State of Knowledge.International journal of molecular sciences · 2023Review
- Intratumoral heterogeneity of c-KIT mutations in a feline splenic mast cell tumor and their functional effects on cell proliferation.Scientific reports · 2022Article
- Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.Cancers · 2022Review
- Targeting KIT by frameshifting mRNA transcripts as a therapeutic strategy for aggressive mast cell neoplasms.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Review
- Protein tyrosine phosphatase receptor type E (PTPRE) regulates the activation of wild-type KIT and KIT mutants differently.Biochemistry and biophysics reports · 2021Article
- Inhibition of KIT Tyrosine Kinase Activity: Two Decades After the First Approval.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021Article
- Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021.International journal of molecular sciences · 2021Review
- Aggressive systemic mastocytosis presenting as rapidly progressive ascites, generalised lymphadenopathy and osteosclerosis.BMJ case reports · 2021Article
- Mast Cell Activation Disorders.Medicina (Kaunas, Lithuania) · 2021Review
- Comprehensively analyze the expression and prognostic role for ten-eleven translocations (TETs) in acute myeloid leukemia.Translational cancer research · 2020Article
- Top-Down Proteomics of Human Saliva Discloses Significant Variations of the Protein Profile in Patients with Mastocytosis.Journal of proteome research · 2020Article
- Mast Cell and Basophil Cell Lines: A Compendium.Methods in molecular biology (Clifton, N.J.) · 2020Review
- Precision Medicine in Hymenoptera Venom Allergy: Diagnostics, Biomarkers, and Therapy of Different Endotypes and Phenotypes.Frontiers in immunology · 2020Review
- A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers.PLoS genetics · 2019Article
60 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Human mastocytosis is characterized by increased mast cells. It usually occurs as a sporadic disease that is often transient and limited in children and persistent or progressive in adults. The c-KIT protooncogene encodes KIT, a tyrosine kinase that is the receptor for mast cell growth factor. Because mutated KIT can transform cells, we examined c-KIT in skin lesions of 22 patients with sporadic mastocytosis and 3 patients with familial mastocytosis. All patients with adult sporadic mastocytosis had somatic c-KIT mutations in codon 816 causing substitution of valine for aspartate and spontaneous activation of mast cell growth factor receptor (P = 0.0001). A subset of four pediatric onset cases with clinically unusual disease also had codon 816 activating mutations substituting valine, tyrosine, or phenylalanine for aspartate. Typical pediatric patients lacked 816 mutations, but limited sequencing showed three of six had a novel dominant inactivating mutation substituting lysine for glutamic acid in position 839, the site of a potential salt bridge that is highly conserved in receptor tyrosine kinases. No c-KIT mutations were found in the entire coding region of three patients with familial mastocytosis. We conclude that c-KIT somatic mutations substituting valine in position 816 of KIT are characteristic of sporadic adult mastocytosis and may cause this disease. Similar mutations causing activation of the mast cell growth factor receptor are found in children apparently at risk for extensive or persistent disease. In contrast, typical pediatric mastocytosis patients lack these mutations and may express inactivating c-KIT mutations. Familial mastocytosis, however, may occur in the absence of c-KIT coding mutations.
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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.