ArticlePloS one2012
Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 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
58 citing papers in PubMed, 116 citations in OpenAlex.
- Efficacy and safety of avapritinib in previously treated patients with advanced systemic mastocytosis.Blood advances · 2022Trial
- Impact of Molecular Evaluations in the Biology, Diagnosis, and Prognostication of Patients With Mastocytosis.The journal of allergy and clinical immunology. In practice · 2026Review
- Tissue-resident immune cells: from defining characteristics to roles in diseases.Signal transduction and targeted therapy · 2025Review
- KIT-Negative Systemic Mastocytosis Associated With Acute Myeloid Leukemia.Case reports in oncological medicine · 2025Article
- Detection ofInternational journal of molecular sciences · 2024Review
- Review
- A multicenter retrospective comparison between systemic mastocytosis with t(8;21) AML and KIT mutant t(8;21) AML.Blood advances · 2024Article
- Avapritinib treatment of aggressive systemic mastocytosis with a novel KIT exon 17 mutation.Leukemia research reports · 2024Article
- Tet2 deficiency drives liver microbiome dysbiosis triggering Tc1 cell autoimmune hepatitis.Cell host & microbe · 2022Article
- CDK4/CDK6 Inhibitors Synergize with Midostaurin, Avapritinib, and Nintedanib in Inducing Growth Inhibition inCancers · 2022Article
- Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.Cancers · 2022Review
- Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.BMC medical genomics · 2022Article
- DNA methylation profile in patients with indolent systemic mastocytosis.Clinical and translational allergy · 2021Article
- Updated Diagnostic Criteria and Classification of Mast Cell Disorders: A Consensus Proposal.HemaSphere · 2021Review
- Mastocytosis and Mast Cell Activation Disorders: Clearing the Air.International journal of molecular sciences · 2021Review
- Vascular endothelial growth factors and angiopoietins as new players in mastocytosis.Clinical and experimental medicine · 2021Article
- Epigenetic Changes in Neoplastic Mast Cells and Potential Impact in Mastocytosis.International journal of molecular sciences · 2021Review
- Systemic Mastocytosis: Molecular Landscape and Implications for Treatment.Mediterranean journal of hematology and infectious diseases · 2021Review
- Butyrate inhibits human mast cell activation via epigenetic regulation of FcεRI-mediated signaling.Allergy · 2020Article
- Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.International journal of molecular sciences · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 4 institutions in 2 countries.
Funding
Abstract
We hypothesized that analysis of single nucleotide polymorphism arrays (SNP-A) and new molecular defects may provide new insight in the pathogenesis of systemic mastocytosis (SM). SNP-A karyotyping was applied to identify recurrent areas of loss of heterozygosity and bidirectional sequencing was performed to evaluate the mutational status of TET2, DNMT3A, ASXL1, EZH2, IDH1/IDH2 and the CBL gene family. Overall survival (OS) was analyzed using the Kaplan-Meier method. We studied a total of 26 patients with SM. In 67% of SM patients, SNP-A karyotyping showed new chromosomal abnormalities including uniparental disomy of 4q and 2p spanning TET2/KIT and DNMT3A. Mutations in TET2, DNMT3A, ASXL1 and CBL were found in 23%, 12%, 12%, and 4% of SM patients, respectively. No mutations were observed in EZH2 and IDH1/IDH2. Significant differences in OS were observed for SM mutated patients grouped based on the presence of combined TET2/DNMT3A/ASXL1 mutations independent of KIT (P = 0.04) and sole TET2 mutations (P<0.001). In conclusion, TET2, DNMT3A and ASXL1 mutations are also present in mastocytosis and these mutations may affect prognosis, as demonstrated by worse OS in mutated patients.
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.