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Gene CSF3R
Variant T618I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R T618I lies within the extracellular domain proximal to the transmembrane domain of the Csf3r protein (PMID: 23656643). T618I confers a gain of function to the Csf3r protein as demonstrated by increased proliferation (PMID: 23656643), increased colony formation (PMID: 31784538), increased downstream Jak-Stat signaling in transformed cells in culture (PMID: 23656643), and led to the development of leukemia in a mouse model (PMID: 31784538).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R T618I

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Transcript NM_000760.4
gDNA chr1:g.36467833G>A
cDNA c.1853C>T
Protein p.T618I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_005270493 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_011540749 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_011540748 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_156039 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_017000370 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_172313 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38

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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