ArticleLeukemia2016
Additional mutations in SRSF2, ASXL1 and/or RUNX1 identify a high-risk group of patients with KIT D816V(+) advanced systemic mastocytosis.
Article in Leukemia, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers.
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Who cites it
107 citing papers in PubMed, 219 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
- 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
- Systemic Mastocytosis in Adults: 2026 Update on Diagnosis, Risk Stratification and Management.American journal of hematology · 2026Review
- Outcomes and prognostic factors in patients with systemic mastocytosis and an associated myeloid neoplasm: an international ECNM registry study.Journal of hematology & oncology · 2026Article
- Efficacy and safety of avapritinib in advanced systemic mastocytosis: 4-year follow-up of the PATHFINDER study.Blood advances · 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
- Clonal Mast Cell Disorders and Mutation Profile in Adults Initially Presenting with Mast Cell Activation (Anaphylaxis) versus Non-Anaphylactic Presentations: A Joint Allergy-Hematology Cohort.Journal of asthma and allergy · 2026Article
- Correlates of organ damage in patients with advanced systemic mastocytosis enrolled in clinical trials of avapritinib.Blood neoplasia · 2025Article
- Midostaurin in daily clinical practice of patients with advanced systemic mastocytosis.British journal of haematology · 2025Article
- Clinical and Biological Characteristics of Four Patients with Aggressive Systemic Mastocytosis Treated with Midostaurin.Biomedicines · 2025Article
- Systemic mastocytosis: current status and challenges in 2024.Blood advances · 2025Review
- Mastocytosis.Nature reviews. Disease primers · 2025Review
- Evaluation of leukemic stem cell (CD26 +) in chronic myeloid leukemia patients with different molecular responses and in treatment-free remission.Clinical and experimental medicine · 2025Article
- Clonal dynamics of aggressive systemic mastocytosis on avapritinib therapy.Blood cancer journal · 2024Article
- Detection ofInternational journal of molecular sciences · 2024Review
- Serum chemistry profiling and prognostication in systemic mastocytosis: a registry-based study of the ECNM and GREM.Blood advances · 2024Article
- Unraveling the Rare Entity ofJournal of hematology · 2024Article
- Article
47 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Most patients with KIT D816V(+) advanced systemic mastocytosis (SM) are characterized by somatic mutations in additional genes. We sought to clarify the prognostic impact of such mutations. Genotype and clinical characteristics of 70 multi-mutated KIT D816V(+) advanced SM patients were included in univariate and multivariate analyses. The most frequently identified mutated genes were TET2 (n=33 of 70 patients), SRSF2 (n=30), ASXL1 (n=20), RUNX1 (n=16) and JAK2 (n=11). In univariate analysis, overall survival (OS) was adversely influenced by mutations in SRSF2 (P<0.0001), ASXL1 (P=0.002) and RUNX1 (P=0.03), but was not influenced by mutations in TET2 or JAK2. In multivariate analysis, SRSF2 and ASXL1 remained the most predictive adverse indicators concerning OS. Furthermore, we found that inferior OS and adverse clinical characteristics were significantly influenced by the number of mutated genes in the SRSF2/ASXL1/RUNX1 (S/A/R) panel (P<0.0001). In conclusion, the presence and number of mutated genes within the S/A/R panel are adversely associated with advanced disease and poor survival in KIT D816V(+) SM. On the basis of these findings, inclusion of molecular markers should be considered in upcoming prognostic scoring systems for patients with SM.
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