ArticleEBioMedicine2019
Single-cell analysis reveals the KIT D816V mutation in haematopoietic stem and progenitor cells in systemic mastocytosis.
Article in EBioMedicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 30 citations in OpenAlex.
- Predicting the clinical course of advanced systemic mastocytosis on treatment with avapritinib or midostaurin.Leukemia · 2026Article
- KIT mutation and AHN-associated oncogenic profiles in systemic mastocytosis with an associated hematological neoplasm.Blood advances · 2026Article
- From fatal disease to functional cure: 25 years of tyrosine kinase inhibition in chronic myeloid leukemia.Leukemia · 2026Review
- Midostaurin in daily clinical practice of patients with advanced systemic mastocytosis.British journal of haematology · 2025Article
- Mastocytosis.Nature reviews. Disease primers · 2025Review
- Inducible pluripotent stem cells to study human mast cell trajectories.Mucosal immunology · 2024Article
- Mast cell distribution and prevalence in the murine urinary bladder.BMC urology · 2024Article
- Metformin: A potential adjunct for treatment of systemic mastocytosis.The journal of allergy and clinical immunology. Global · 2024Article
- Mast cell ontogeny: From fetal development to life-long health and disease.Immunological reviews · 2023Review
- The Role of Mast Cells in the Induction and Maintenance of Inflammation in Selected Skin Diseases.International journal of molecular sciences · 2023Review
- KIT D816V Mast Cells Derived from Induced Pluripotent Stem Cells Recapitulate Systemic Mastocytosis Transcriptional Profile.International journal of molecular sciences · 2023Article
- Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia withAnnals of laboratory medicine · 2022Article
- Mast Cell Activation Syndromes: Collegium Internationale Allergologicum Update 2022.International archives of allergy and immunology · 2022Review
- Interrogating the molecular genetics of chronic myeloproliferative malignancies for personalized management in 2021.Haematologica · 2021Article
- New Insights into the Pathogenesis of Systemic Mastocytosis.International journal of molecular sciences · 2021Review
- Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis.International journal of molecular sciences · 2021Review
- Fetal-Derived Immune Cells at the Roots of Lifelong Pathophysiology.Frontiers in cell and developmental biology · 2021Review
- CD203c distinguishes the erythroid and mast cell-basophil differentiation trajectories among human FcεRIAllergy · 2020Article
- The genetics of human hematopoiesis and its disruption in disease.EMBO molecular medicine · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSystemic mastocytosis (SM) is a haematological disease characterised by organ infiltration by neoplastic mast cells. Almost all SM patients have a mutation in the gene encoding the tyrosine kinase receptor KIT causing a D816V substitution and autoactivation of the receptor. Mast cells and CD34
methodsFluorescence-activated single-cell index sorting and KIT D816V mutation assessment were applied to analyse mast cells and >10,000 CD34
findingsWe found that in SM 60-99% of the mast cells harboured the KIT D816V mutation. Despite increased frequencies of mast cells in SM patients compared with control subjects, the haematopoietic progenitor subset frequencies were comparable. Nevertheless, the mutation could be detected throughout the haematopoietic landscape of SM patients, from haematopoietic stem cells to more lineage-primed progenitors. In addition, we demonstrate that FcεRI
interpretationThe KIT D816V mutation arises in early haematopoietic stem and progenitor cells and the mutation frequency is approaching 100% in mature mast cells, which express the aberrant marker CD45RA.
Indexed as
Identifiers
What OpenQuestion holds
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.