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Gene Symbol CSF3R
Synonyms CD114 | GCSFR | SCN7
Gene Description CSF3R, colony stimulating factor 3 receptor, encodes a cytokine receptor regulating proliferation and differentiation of myeloid progenitor cells (PMID: 27789332). CSF3R mutations commonly occur in chronic neutrophilic leukemia and acute myeloid leukemia (PMID: 23896413, PMID: 30348809).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
1441 1 1p34.3 NM_000760 Oncogene (PMID: 30606230)

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF3R T618I hematologic cancer sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited colony formation in transformed bone marrow cells expressing CSF3R T618I in culture (PMID: 29572350). 29572350
CSF3R T618I hematologic cancer predicted - resistant Dasatinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing CSF3R T618I demonstrated resistance to treatment with Sprycel (dasatinib) in culture (PMID: 28031554). 28031554
CSF3R T618I Advanced Solid Tumor sensitive Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing CSF3R T618I were sensitive to treatment with Imbruvica (ibrutinib) in culture, demonstrating a reduced cell proliferation (PMID: 29977015). 29977015
CSF3R T618I hematologic cancer no benefit Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed bone marrow cells expressing CSF3R T618I were not sensitive to Gleevec (imatinib) in culture, demonstrating similar colony formation compared to treatment controls (PMID: 29572350). 29572350
CSF3R T618I hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited colony formation in transformed bone marrow cells expressing CSF3R T618I in culture (PMID: 29572350). 29572350
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
CSF3R T618I chronic neutrophilic leukemia predicted - sensitive Ruxolitinib Case Reports/Case Series Actionable In a clinical case study, Jakafi (ruxolitinib) treatment resulted in symptom improvement and decreased spleen and liver size lasting 5 months in a patient with chronic neutrophilic leukemia harboring CSF3R T618I along with SETBP1 G870S (PMID: 27068405). 27068405
CSF3R T618I chronic neutrophilic leukemia predicted - sensitive Ruxolitinib Case Reports/Case Series Actionable In a Phase II trial, Jakafi (ruxolitinib) treatment resulted in an overall hematologic response rate of 35% (15/43, 4 complete and 11 partial responses) and a median overall survival of 18.8 months in patients with chronic neutrophilic leukemia (CNL) or atypical chronic myeloid leukemia harboring CSF3R mutations, including T618I (n=20), T640N (n=1), and T615A (n=1), with 2 complete and 9 partial responses in CNL patients harboring CSF3R T618I (PMID: 31880950; NCT02092324). 31880950
CSF3R T618I Advanced Solid Tumor sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) reduced colony formation of cells expressing CSF3R T618I in culture (PMID: 26475333, PMID: 29977015). 26475333 29977015
CSF3R T618I hematologic cancer sensitive Ruxolitinib + Trametinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Jakafi (ruxolitinib) and Mekinist (trametinib) synergized to inhibit colony formation in transformed bone marrow cells expressing CSF3R T618I in culture, and demonstrated improved efficacy over either agent alone (PMID: 29572350). 29572350
CSF3R T618I Advanced Solid Tumor sensitive Ibrutinib + Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Imbruvica (ibrutinib) and Jakafi (ruxolitinib) resulted in a synergistic effect in cells expressing CSF3R T618I, demonstrating greater decreased cell viability as compared to either agent alone (PMID: 29977015). 29977015
CSF3R T618I CSF3R W791* hematologic cancer predicted - resistant AZD1480 Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells co-expressing CSF3R T618I and CSF3R W791* were resistant to treatment with AZD1480 in culture (PMID: 28031554). 28031554
CSF3R T618I CSF3R W791* hematologic cancer predicted - resistant Dasatinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells co-expressing CSF3R T618I and CSF3R W791* were resistant to treatment with Sprycel (dasatinib) in culture (PMID: 28031554). 28031554
CSF3R T618I CSF3R W791* hematologic cancer predicted - resistant Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells co-expressing CSF3R T618I and CSF3R W791* were resistant to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased cell survival (PMID: 28031554). 28031554
CSF3R T618I CSF3R Q741* hematologic cancer predicted - resistant AZD1480 Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells co-expressing CSF3R T618I and CSF3R Q741* were resistant to treatment with AZD1480 in culture (PMID: 28031554). 28031554
CSF3R T618I CSF3R Q741* hematologic cancer predicted - resistant Dasatinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells co-expressing CSF3R T618I and CSF3R Q741* were resistant to treatment with Sprycel (dasatinib) in culture (PMID: 28031554). 28031554
CSF3R T618I CSF3R Q741* hematologic cancer predicted - resistant Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells co-expressing CSF3R T618I and CSF3R Q741* were resistant to treatment with Jakafi (ruxolitinib) in culture (PMID: 28031554). 28031554
CSF3R T618I CSF3R Q749* chronic neutrophilic leukemia predicted - sensitive Ruxolitinib Case Reports/Case Series Actionable In a clinical case study, Jakafi (ruxolitinib) treatment resulted in hematologic remission for at least 3 years in a patient with chronic neutrophilic leukemia harboring CSF3R T618I and Q749* along with DNMT3A R882C (PMID: 32577845). 32577845
CSF3R Q741* hematologic cancer predicted - sensitive AZD1480 Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing CSF3R Q741* were sensitive to treatment with AZD1480 in culture, demonstrating decreased cell survival (PMID: 28031554). 28031554
CSF3R Q741* hematologic cancer predicted - resistant Dasatinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing CSF3R Q741* demonstrated resistance to treatment with Sprycel (dasatinib) in culture (PMID: 28031554). 28031554
CSF3R Q741* Advanced Solid Tumor sensitive Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing CSF3R Q741* were sensitive to treatment with Imbruvica (ibrutinib) in culture, demonstrating a reduced cell proliferation (PMID: 29977015). 29977015
CSF3R Q741* hematologic cancer predicted - sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing CSF3R Q741* were sensitive to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased cell survival (PMID: 28031554). 28031554
CSF3R Q741* Advanced Solid Tumor sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing CSF3R Q741* were sensitive to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased total colony formation (PMID: 29977015). 29977015
CSF3R Q741* Advanced Solid Tumor sensitive Ibrutinib + Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Imbruvica (ibrutinib) and Jakafi (ruxolitinib) resulted in a synergistic effect in cells expressing CSF3R Q741*, demonstrating greater decreased cell viability as compared to either agent alone (PMID: 29977015). 29977015
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 S783fs chronic neutrophilic leukemia predicted - sensitive Dasatinib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a patient with chronic neutrophilic leukemia harboring CSF3R S783fs demonstrated sensitive to treatment with Sprycel (dasatinib) in culture (PMID: 23656643). 23656643
CSF3R S783fs chronic neutrophilic leukemia predicted - resistant Momelotinib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a patient with chronic neutrophilic leukemia harboring CSF3R S783fs did not respond to treatment with Momelotinib (CYT387) in culture (PMID: 23656643). 23656643
CSF3R S783fs chronic neutrophilic leukemia predicted - resistant Tofacitinib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a patient with chronic neutrophilic leukemia harboring CSF3R S783fs did not respond to treatment with Xeljanz (tofacitinib) in culture (PMID: 23656643). 23656643
CSF3R S783fs chronic neutrophilic leukemia predicted - resistant Pyridone 6 Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a patient with chronic neutrophilic leukemia harboring CSF3R S783fs did not respond to treatment with Pyridone 6 (CMP6) in culture (PMID: 23656643). 23656643
CSF3R W791* hematologic cancer predicted - sensitive AZD1480 Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing CSF3R W791* were sensitive to treatment with AZD1480 in culture, demonstrating decreased cell survival (PMID: 28031554). 28031554
CSF3R W791* hematologic cancer predicted - resistant Dasatinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing CSF3R W791* demonstrated resistance to treatment with Sprycel (dasatinib) in culture (PMID: 28031554). 28031554
CSF3R W791* hematologic cancer predicted - sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing CSF3R W791* were sensitive to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased cell survival (PMID: 28031554). 28031554
CSF3R W341C CSF3R W791* hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, (ruxolitinib) inhibited viability of a cell line expressing CSF3R W341C and W791* in culture (PMID: 28652245). 28652245
CSF3R T640N chronic neutrophilic leukemia predicted - sensitive Ruxolitinib Case Reports/Case Series Actionable In a Phase II trial, Jakafi (ruxolitinib) treatment resulted in an overall hematologic response rate of 35% (15/43, 4 complete and 11 partial responses) and a median overall survival of 18.8 months in patients with chronic neutrophilic leukemia (CNL) or atypical chronic myeloid leukemia harboring CSF3R mutations T618I (n=20), T640N (n=1), and T615A (n=1), including a complete response in a CNL patient harboring CSF3R T640N (PMID: 31880950; NCT02092324). 31880950
CSF3R T640N Advanced Solid Tumor sensitive Ruxolitinib Preclinical Actionable In a preclinical study, Jakafi (ruxolitinib) reduces colony formation of cells expressing CSF3R T640N in culture (PMID: 26475333). 26475333
CSF3R mutant bone marrow cancer not applicable N/A Clinical Study Emerging In clinical studies, high frequency of CSF3R mutations was identified in patients with chronic neutrophilic leukemia (PMID: 23656643, PMID: 24081659), suggesting that this may serve as a future diagnostic biomarker (PMID: 24441292). 24081659 23656643 24441292
CSF3R N610H Advanced Solid Tumor predicted - sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited growth of transformed cells expressing CSF3R N610H in culture (PMID: 30348809). 30348809
CSF3R N610H Advanced Solid Tumor sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited growth of transformed cells expressing CSF3R N610H in culture (PMID: 30348809). 30348809
CSF3R N610S Advanced Solid Tumor predicted - sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited growth of transformed cells expressing CSF3R N610S in culture (PMID: 30348809). 30348809
CSF3R N610S Advanced Solid Tumor sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited growth of transformed cells exxpressing CSF3R N610S in culture (PMID: 30348809). 30348809
CSF3R W341C hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited viability of a cell line expressing CSF3R W341C in culture (PMID: 28652245). 28652245
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