ArticleThe Journal of molecular diagnostics : JMD2011
Improved detection of the KIT D816V mutation in patients with systemic mastocytosis using a quantitative and highly sensitive real-time qPCR assay.
Article in The Journal of molecular diagnostics : JMD, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers.
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Who cites it
84 citing papers in PubMed, 200 citations in OpenAlex.
- Efficacy and safety of avapritinib in previously treated patients with advanced systemic mastocytosis.Blood advances · 2022Trial
- Efficacy and safety of midostaurin in patients with advanced systemic mastocytosis: 10-year median follow-up of a phase II trial.Leukemia · 2018Trial
- A distinct biomolecular profile identifies monoclonal mast cell disorders in patients with idiopathic anaphylaxis.The Journal of allergy and clinical immunology · 2018Trial
- SuperRCA assay ofThe journal of allergy and clinical immunology. Global · 2026Article
- KIT mutation and AHN-associated oncogenic profiles in systemic mastocytosis with an associated hematological neoplasm.Blood advances · 2026Article
- Article
- The REMA Score Revisited: An Optimized Algorithm for Early Prediction of Clonal Mast Cell Disease.Allergy · 2026Article
- Low BMD is uncommon in pediatric mastocytosis: a DEXA- based cohort study.European journal of pediatrics · 2026Article
- Ultra-Sensitive Mutation Detection Technology in Myeloid Neoplasms: New Tools for Patient Monitoring.Journal of clinical medicine · 2026Review
- Impact of Molecular Evaluations in the Biology, Diagnosis, and Prognostication of Patients With Mastocytosis.The journal of allergy and clinical immunology. In practice · 2026Review
- Article
- Diagnosis and management of mast cell activation syndrome (MCAS) in Canada: a practical approach.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025Review
- French guidelines for the management of nonadvanced mastocytosis in adults.Orphanet journal of rare diseases · 2025Article
- Prevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis.British journal of haematology · 2025Article
- Mastocytosis in the Skin: Approach to Diagnosis, Evaluation, and Management in Adult and Pediatric Patients.American journal of clinical dermatology · 2025Review
- Sensitive and reliable detection of KIT p.D816V mutation in decalcified archival bone marrow trephines.Virchows Archiv : an international journal of pathology · 2025Article
- Severe Anemia With Intraosseous-Intramuscular Hemorrhage in a Patient With Kit-C-Negative Systemic Mastocytosis.Cureus · 2025Article
- Mastocytosis.Nature reviews. Disease primers · 2025Review
- Diagnostic next-generation sequencing to detect MYD88 L265P in Lymphoplasmacytic lymphoma compared to ddPCR.Experimental and molecular pathology · 2025Article
- Management of Bone Health in Adult Mastocytosis.Current osteoporosis reports · 2025Review
24 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The vast majority of patients with systemic mastocytosis (SM) carry the somatic D816V mutation in the KIT gene. The KIT D816V mutation is one of the minor criteria for a diagnosis of SM according to the 2008 World Health Organization classification of myeloproliferative neoplasms. In the present study, we present a real-time qPCR assay that allows quantification of as little as 0.003% KIT D816V mutation-positive cells. A total of 61 samples from 31 cases of SM were included in the study. We detected the mutation in skin or bone marrow in 95% of the cases of SM. We demonstrate the clinical relevance of the assay by identifying as little as 0.03% mutation-positive cells in bone marrow aspirates from SM patients and calculate the analytical sensitivity of negative samples to determine the reliability of the result. We further demonstrate that this method also detects the KIT D816V mutation in peripheral blood in 81% of the mutation-positive cases with SM. The method also allows comparison of mutation-positive and mast cell fractions to determine whether the mutation is present in non-mast cells, a parameter that has recently been reported to be of prognostic importance in patients with indolent SM. Finally, the assay is suitable for use in prospective studies of the KIT D816V allele burden as a treatment endpoint in SM.
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Registered trials
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