ArticleThe American journal of pathology2003
One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes.
Article in The American journal of pathology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 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.
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
66 citing papers in PubMed, 203 citations in OpenAlex.
- KIT mutation and AHN-associated oncogenic profiles in systemic mastocytosis with an associated hematological neoplasm.Blood advances · 2026Article
- Systemic Mastocytosis in Adults: 2026 Update on Diagnosis, Risk Stratification and Management.American journal of hematology · 2026Review
- The REMA Score Revisited: An Optimized Algorithm for Early Prediction of Clonal Mast Cell Disease.Allergy · 2026Article
- 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
- Sensitive and reliable detection of KIT p.D816V mutation in decalcified archival bone marrow trephines.Virchows Archiv : an international journal of pathology · 2025Article
- Systemic Mastocytosis and Other Entities Involving Mast Cells: A Practical Review and Update.Cancers · 2022Review
- Review
- Cutaneous Mastocytosis in Childhood-Update from the Literature.Journal of clinical medicine · 2021Review
- Systemic Mastocytosis: Multidisciplinary Approach.Mediterranean journal of hematology and infectious diseases · 2021Review
- Systemic Mastocytosis: Molecular Landscape and Implications for Treatment.Mediterranean journal of hematology and infectious diseases · 2021Review
- Recent Advances in the Molecular Biology of Systemic Mastocytosis: Implications for Diagnosis, Prognosis, and Therapy.International journal of molecular sciences · 2020Review
- The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS).Clinical reviews in allergy & immunology · 2020Review
- Molecular quantification of tissue disease burden is a new biomarker and independent predictor of survival in mastocytosis.Haematologica · 2020Article
- Digital PCR: A Sensitive and Precise Method forClinical chemistry · 2018Article
- CCL2 is a KIT D816V-dependent modulator of the bone marrow microenvironment in systemic mastocytosis.Blood · 2017Article
- Targeted Treatment Options in Mastocytosis.Frontiers in medicine · 2017Review
- Article
- Advances in the understanding and clinical management of mastocytosis and clonal mast cell activation syndromes.F1000Research · 2016Review
- Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis.Cell & bioscience · 2016Review
6 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
9 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The prognostic significance of somatic activating codon 816 c-kit mutations in pediatric urticaria pigmentosa has not yet been established in detail. Detection of such mutations in archival paraffin-embedded biopsies is usually hampered by an abundance of surrounding normal cells. Here we describe a method for the selective amplification and specific detection of c-kit mutation Asp816-->Val in complete tissue sections cut from up to 24-year-old paraffin blocks. Peptide nucleic acid-mediated polymerase chain reaction clamping of the wild-type allele was combined with on-line mutation detection using oligonucleotide hybridization probes. In DNA extracted from HMC-1 cells heterozygously carrying the c-kit mutation Asp816-->Val, the one-tube assay allowed specific detection of this mutation in a more than 1000-fold excess of normal background DNA within 1 hour and without the need for additional analytical steps. In a series of 38 cases with pediatric urticaria pigmentosa we detected c-kit codons 815 and 816 mutations in 16 cases. Mutation detection did not correlate with clinical outcome after a mean follow-up of 11.2 years. In conclusion, the procedure described may represent an ideal screening tool for all kinds of clinical applications, using point mutations as markers of, for example, early events in carcinogenesis, circulating metastatic tumor cells, and minimal residual disease.
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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.