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Ref Type
PMID (36579444)
Authors Maniaci BN, Chung J, Sanz-Altamira P, DeAngelo DJ, Maxson JE
Title A novel Colony Stimulating Factor 3 Receptor activating mutation identified in a patient with chronic neutrophilic leukemia.
Journal Vol Issue Date Pages Journal Short Title
Haematologica 2022 Dec 29 1945-1950 Haematologica
URL
Abstract Text Not available.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
CSF3R N579Y missense gain of function CSF3R N579Y lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). N579Y confers a gain of function to Csf3r as demonstrated by cytokine-independent growth and increased Erk1/2 and Stat3 phosphorylation in cultured cells (PMID: 36579444).
CSF3R Q739* nonsense unknown CSF3R Q739* results in a premature truncation of the Csf3r protein at amino acid 739 of 836 (UniProt.org). Q739* has been identified in the scientific literature (PMID: 25865944, PMID: 29932212, PMID: 36579444), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF3R N579Y CSF3R Q739* CSF3R Q741* chronic neutrophilic leukemia predicted - sensitive Ruxolitinib Preclinical - Patient cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) treatment inhibited colony formation of hematopoietic progenitor cells isolated from the bone marrow of a patient with chronic neutrophilic leukemia harboring CSF3R N579Y, Q739*, and Q741* in culture (PMID: 36579444). 36579444
CSF3R N579Y hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) treatment inhibited colony formation and decreased viability of transformed cells expressing CSF3R N579Y in culture (PMID: 36579444). 36579444
CSF3R T618I hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited growth of a transformed cell line expressing CSF3R T618I in culture (PMID: 36579444). 36579444