ArticleOncotarget2014
Identification of kit(M541L) somatic mutation in chronic eosinophilic leukemia, not otherwise specified and its implication in low-dose imatinib response.
Article in Oncotarget, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 38 citations in OpenAlex.
- Granuloma annulare-like pseudohistiocytosis: a specific manifestation ofHaematologica · 2026Article
- Value and limitations of targeted next-generation sequencing in idiopathic hypereosinophilia: an integrative diagnostic tool in challenging cases.Clinical and experimental medicine · 2024Article
- Additional Genetic Alterations and Clonal Evolution of MPNs with Double Mutations on theHematology reports · 2023Article
- Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing.Life (Basel, Switzerland) · 2021Review
- Detection of cryptogenic malignancies from metagenomic whole genome sequencing of body fluids.Genome medicine · 2021Article
- Prevalence and significance of M541L single nucleotide polymorphism in the central European cohort of gastrointestinal stromal tumor patients.Journal of cancer research and clinical oncology · 2021Article
- Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.Frontiers in oncology · 2021Article
- Next generation sequencing identifies novel potential actionable mutations for grade I meningioma treatment.Histology and histopathology · 2020Article
- Application of targeted next generation sequencing for the mutational profiling of patients with acute lymphoblastic leukemia.Journal of medical biochemistry · 2020Article
- Molecular Response to Neoadjuvant Chemotherapy in High-Grade Serous Ovarian Carcinoma.Molecular cancer research : MCR · 2018Article
- An unusual type of myeloid sarcoma localization following myelofibrosis: A case report and literature review.Leukemia research reports · 2017Article
- Targeted next-generation sequencing identifies a subset of idiopathic hypereosinophilic syndrome with features similar to chronic eosinophilic leukemia, not otherwise specified.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2016Article
- Retrospective study testing next generation sequencing of selected cancer-associated genes in resected prostate cancer.Oncotarget · 2016Article
- KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome.BMC cancer · 2015Article
- Targeting phosphatidylinositol-3-kinase pathway for the treatment of Philadelphia-negative myeloproliferative neoplasms.Molecular cancer · 2015Review
- The KDR (VEGFR-2) Genetic Polymorphism Q472H and c-KIT Polymorphism M541L Are Associated With More Aggressive Behaviour in Astrocytic Gliomas.Cancer genomics & proteomicsArticle
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Activating mutations of KIT receptor tyrosine kinase have been reported in different neoplasms. The M541L KIT substitution (KIT(M541L)) has been described to be associated with pediatric mastocytosis, to enhance growth rate of the affected cells and to confer higher sensitivity to imatinib therapy. We investigated the presence of KIT(M541L) in five males with chronic eosinophilic leukemia, not otherwise specified (CEL, NOS), all negative for Platelet-derived growth factor-alpha (PDGFR) or PDGFRbeta abnormalities, which responded to imatinib therapy. To assess whether the mutation was constitutive or somatic in nature, we evaluated its presence analyzing either the neoplastic or normal cell population (epidermal cells or CD3-positive T lymphocytes). KIT(M541L) substitution was found in 4 out of 5 patients and in all it was somatic in nature. All patients were treated with low dose imatinib (100 mg daily orally), achieving complete and persistent clinical and hematological remission (median follow-up 74 months). One patient relapsed after 50 months. Our study strongly suggests to search for the KIT(M541L) in patients with CEL, NOS, negative for PDGFRalpha and PDGFRbeta abnormalities, to identify a subgroup of cases who may benefit from low dose imatinib therapy.
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