ArticleBlood advances2023
Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry.
Article in Blood advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 38 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
- Mast cell leukemia with complex genomic alterations in an elderly patient with prior hematologic and solid malignancies: a case report.Annals of medicine and surgery (2012) · 2026Article
- Subtype-specific outcome after allogeneic hematopoietic cell transplantation in advanced systemic mastocytosis: a registry study of the European competence network on mastocytosis.Experimental hematology & oncology · 2026Article
- Diagnosing Systemic Mastocytosis: State of the Art.International journal of laboratory hematology · 2026Review
- Efficacy and safety of avapritinib in advanced systemic mastocytosis: 4-year follow-up of the PATHFINDER study.Blood advances · 2026Article
- Case Report: Experience of a rare case of primary acute mast cell leukemia with FGFR1 gene rearrangement.Frontiers in oncology · 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
- Case report: A case of mast cell leukemia treated with avapritinib: from diagnostic challenge to transplantation.Frontiers in oncology · 2026Article
- Correlates of organ damage in patients with advanced systemic mastocytosis enrolled in clinical trials of avapritinib.Blood neoplasia · 2025Article
- Mast Cell Leukemia: Comprehensive Review of Literature With Current Insights and Updates on Management.Journal of hematology · 2025Review
- Mastocytosis.Nature reviews. Disease primers · 2025Review
- Case report: Experience of a rare case of primary acute mast cell leukemia.Leukemia research reports · 2025Article
- Case Report: A rare case of synchronous ovarian mixed germ cell tumor and mast cell leukemia in a pediatric patient.Frontiers in oncology · 2025Article
- Mast cell leukemia: a rare case report and literature review.Frontiers in oncology · 2025Article
- Utility of tryptase genotyping in the screening, diagnosis, and management of systemic mastocytosis.Frontiers in allergy · 2025Review
- Treatment refractory mast cell leukemia with dominant gastrointestinal manifestation and concomitant skin symptoms: A case report.World journal of clinical cases · 2024Article
- Review
- Poor Applicability of Currently Available Prognostic Scoring Systems for Prediction of Outcome inCancers · 2024Article
- Renal Extramedullary Hematopoiesis in Mast Cell Leukemia with Bone Marrow Fibrosis.Case reports in hematology · 2024Article
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Authors and funding
55 authors at 20 institutions in 15 countries.
Funding
Abstract
Mast cell leukemia (MCL) is a rare subtype of systemic mastocytosis defined by ≥20% mast cells (MC) on a bone marrow aspirate. We evaluated 92 patients with MCL from the European Competence Network on Mastocytosis registry. Thirty-one (34%) patients had a diagnosis of MCL with an associated hematologic neoplasm (MCL-AHN). Chronic MCL (lack of C-findings) comprised 14% of patients, and only 4.5% had "leukemic MCL" (≥10% circulating MCs). KIT D816V was found in 62/85 (73%) evaluable patients; 9 (11%) individuals exhibited alternative KIT mutations, and no KIT variants were detected in 14 (17%) subjects. Ten evaluable patients (17%) had an abnormal karyotype and the poor-risk SRSF2, ASXL1, and RUNX1 (S/A/R) mutations were identified in 16/36 (44%) patients who underwent next-generation sequencing. Midostaurin was the most common therapy administered to 65% of patients and 45% as first-line therapy. The median overall survival (OS) was 1.6 years. In multivariate analysis (S/A/R mutations excluded owing to low event rates), a diagnosis of MCL-AHN (hazard ratio [HR], 4.7; 95% confidence interval [CI], 1.7-13.0; P = .001) and abnormal karyotype (HR, 5.6; 95% CI, 1.4-13.3; P = .02) were associated with inferior OS; KIT D816V positivity (HR, 0.33; 95% CI, 0.11-0.98; P = .04) and midostaurin treatment (HR, 0.32; 95% CI, 0.08-0.72; P = .008) were associated with superior OS. These data provide the most comprehensive snapshot of the clinicopathologic, molecular, and treatment landscape of MCL to date, and should help further inform subtyping and prognostication of MCL.
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