ArticleLeukemia2013
CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia.
Article in Leukemia, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 129 papers, 1 of them a synthesis that pooled it.
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Who cites it
129 citing papers in PubMed, 1 synthesis or guideline pooled it, 248 citations in OpenAlex.
- Pooled it
- Efficacy of Ruxolitinib in Patients With Chronic Neutrophilic Leukemia and Atypical Chronic Myeloid Leukemia.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2020Trial
- Myeloid/Lymphoid Neoplasm with FGFR1::ZMYM2 Rearrangement Presenting as T-Cell Acute Lymphoblastic Lymphoma with Concurrent Myeloproliferative Neoplasm: A Case Report.Hematology reports · 2026Article
- Article
- Colony-Stimulating Factor 3 Receptor Mutations and Variants in Hematological Malignancies.Cancers · 2025Review
- Can molecular patterns help to classify overlapping entities in myeloid neoplasms?Histopathology · 2025Review
- Transcriptomic signature can distinguish chronic neutrophilic leukemia from ambiguous neutrophilic leukemias.Frontiers in genetics · 2025Article
- Distribution of different classes of CSF3R mutations and co-mutational pattern in 360 myeloid neoplasia.Annals of hematology · 2025Article
- The spectrum of Ph-negative disease: CNL and CSF3R-related disorders.Hematology. American Society of Hematology. Education Program · 2024Review
- Rare case of simultaneous occurrence of chronic neutrophil leukemia and T lymphoblastic lymphoma: case report and literature review.Annals of hematology · 2024Review
- Research progress of additional pathogenic mutations in chronic neutrophilic leukemia.Annals of hematology · 2024Review
- Article
- CSF3R as a potential prognostic biomarker and immunotherapy target in glioma.Central-European journal of immunology · 2024Article
- Commentary: Case report: Chronic neutrophilic leukemia associated with monoclonal gammopathies. A case series and review of genetic characteristics and practical management.Frontiers in oncology · 2024Article
- GermlineInternational journal of molecular sciences · 2023Article
- ANKRD26 is a new regulator of type I cytokine receptor signaling in normal and pathological hematopoiesis.Haematologica · 2023Article
- A novel colony stimulating factor 3 receptor activating mutation identified in a patient with chronic neutrophilic leukemia.Haematologica · 2023Article
- Autoimmune hemolytic anemia complicating a chronic neutrophilic leukemia: A case report of a rare association.Clinical case reports · 2023Article
- CNL and aCML should be considered as a single entity based on molecular profiles and outcomes.Blood advances · 2023Article
- Editorial: Case reports in hematological malignancies: 2022.Frontiers in oncology · 2023Article
69 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Truncation mutations of the receptor cytoplasmic domain for colony-stimulating factor 3 (CSF3R) are frequently seen in severe congenital neutropenia, whereas activating missense mutations affecting the extracellular domain (exon 14) have been described in hereditary neutrophilia and chronic neutrophilic leukemia (CNL). In order to clarify mutational frequency, specificity and phenotypic associations, we sequenced CSF3R exons 14-17 in 54 clinically suspected cases of CNL (n=35) or atypical chronic myeloid leukemia (aCML; n=19). Central review of these cases confirmed WHO-defined CNL in 12 patients, monoclonal gammopathy (MG)-associated CNL in 5 and WHO-defined aCML in 9. A total of 14 CSF3R mutations were detected in 13 patients, including 10 with CSF3RT618I (exon 14 mutation, sometimes annotated as CSF3R T595I). CSF3RT618I occurred exclusively in WHO-defined CNL with a mutational frequency of 83% (10 of 12 cases). CSF3R mutations were not seen in aCML or MG-associated CNL. CSF3RT618I was also absent among 170 patients with primary myelofibrosis (PMF; n=76) or chronic myelomonocytic leukemia (CMML; n=94). SETBP1 mutational frequencies in WHO-defined CNL, aCML, CMML and PMF were 33, 0, 7 and 3%, respectively. Four CSF3RT618I-mutated cases co-expressed SETBP1 mutations. We conclude that CSF3RT618I is a highly sensitive and specific molecular marker for CNL and should be incorporated into current diagnostic criteria.
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