ArticleLeukemia2015
Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event.
Article in Leukemia, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
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Who cites it
78 citing papers in PubMed, 149 citations in OpenAlex.
- Predicting the clinical course of advanced systemic mastocytosis on treatment with avapritinib or midostaurin.Leukemia · 2026Article
- The Clinical and Molecular Characteristics of Systemic Mastocytosis with Associated Non-Mast Cell Myeloid Neoplasm.Journal of clinical medicine · 2026Article
- KIT mutation and AHN-associated oncogenic profiles in systemic mastocytosis with an associated hematological neoplasm.Blood advances · 2026Article
- Outcomes and prognostic factors in patients with systemic mastocytosis and an associated myeloid neoplasm: an international ECNM registry study.Journal of hematology & oncology · 2026Article
- Coincidence or Connection? Revisiting the Relationship Between Mastocytosis and Lymphoma.Mediterranean journal of hematology and infectious diseases · 2026Article
- Tissue-Resident Myeloid and Histiocytic Cells in Health and Disease: Novel Emerging Concepts.American journal of hematology · 2025Review
- 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, morphological and genetic characteristics of patients with concurrent presence of JAK2 V617F and BCR::ABL1.Scientific reports · 2025Article
- KIT-Negative Systemic Mastocytosis Associated With Acute Myeloid Leukemia.Case reports in oncological medicine · 2025Article
- Detection ofInternational journal of molecular sciences · 2024Review
- Cbl and Cbl-b ubiquitin ligases are essential for intestinal epithelial stem cell maintenance.iScience · 2024Article
- Serum chemistry profiling and prognostication in systemic mastocytosis: a registry-based study of the ECNM and GREM.Blood advances · 2024Article
- Review
- Response and resistance to cladribine in patients with advanced systemic mastocytosis: a registry-based analysis.Annals of hematology · 2023Article
- c-Kit signaling potentiates CAR T cell efficacy in solid tumors by CD28- and IL-2-independent co-stimulation.Nature cancer · 2023Article
- Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry.Blood advances · 2023Article
- Engraftment in NSGLeukemia · 2023Article
- Mast cell ontogeny: From fetal development to life-long health and disease.Immunological reviews · 2023Review
- Recent advances in diagnosis and therapy in systemic mastocytosis.Blood research · 2023Review
18 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To explore the molecular profile and its prognostic implication in systemic mastocytosis (SM), we analyzed the mutation status of granulocyte-macrophage colony-forming progenitor cells (CFU-GM) in patients with KIT D816V(+) indolent SM (ISM, n=4), smoldering SM (SSM, n=2), aggressive SM (ASM, n=1), SM with associated clonal hematologic non-mast cell lineage disorder (SM-AHNMD, n=5) and ASM-AHNMD (n=7). All patients with (A)SM-AHNMD (n=12) carried 1-4 (median 3) additional mutations in 11 genes tested, most frequently TET2, SRSF2, ASXL1, CBL and EZH2. In multi-mutated (A)SM-AHNMD, KIT D816V(+) single-cell-derived CFU-GM colonies were identified in 8/12 patients (median 60%, range 0-95). Additional mutations were identified in CFU-GM colonies in all patients, and logical hierarchy analysis indicated that mutations in TET2, SRSF2 and ASXL1 preceded KIT D816V. In ISM/SSM, no additional mutations were detected and CFU-GM colonies were exclusively KIT D816V(-). These data indicate that (a) (A)SM-AHNMD is a multi-mutated neoplasm, (b) mutations in TET2, SRSF2 or ASXL1 precede KIT D816V in ASM-AHNMD,
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