Gene

CSF3R

colony stimulating factor 3 receptor

Explore in graph →CI-GENE-00042324HGNC:2439 ENSG00000119535 NCBI 1441 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (5)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–5 of 5 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
CSF3R Mutation2
(diagnostic)	Chronic Neutrophilic Leukemia	Diagnostic	B	Supports Positive	3	accepted	EID1388 Study found that mutations in CSF3R are enriched in patients with Chronic Neutrophilic Leukemia (CNL) or Atypical Chronic Myeloid Leukemia (16/27, 59%) when compared to other blood disorders (AML=1/29…

Cohorts

Alteration frequency by cohort (68)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved68 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Comparison of Cutaneous Sarcomas, CSCC and Deeper Sarcomas (DFCI, 2026) sarcoma_dfci_genie_2026	unmapped	Ssm	6	48	12.5%

Literature

Linked publications (3)

25 per page, newest first.

pubmedPublishedShowing 1–3 of 3 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML.
· N Engl J Med · 2013 · PMID 23656643 · validated civic_curation pubmed
Significant clinical response to JAK1/2 inhibition in a patient with CSF3R-T618I-positive atypical chronic myeloid leukemia.
· Leuk Res Rep · 2014 · PMID 25180155 · validated civic_curation pubmed
The CSF3R T618I mutation causes a lethal neutrophilic neoplasia in mice that is responsive to therapeutic JAK inhibition.
· Blood · 2013 · PMID 24081659 · validated civic_curation pubmed

CSF3R T618I3
(prognostic)	Acute Myeloid LeukemiaCURATED_BROADER	Prognostic	B	Supports Poor Outcome	4	submitted	EID9072 Tarlock et al. (2020) report the incidence of CSF3R mutations in a large cohort of pediatric AML; CSF3R mutations almost always cooccured mutually exclusively with either CEBPA variants or t(8;21). Th… (full text at CIViC) PMID 32187354 · Tarlock et al., 2020 · Open in CIViC	civic
Ruxolitinib	Chronic Neutrophilic Leukemia	Predictive	C	Supports Sensitivity Response	4	accepted	EID6381 Case report of a patient treated with ruxolitinib, an FDA-approved JAK1/2 inhibitor, which resulted in dramatic improvement of his blood counts. He also had significant reduction of spleen volume and … (full text at CIViC) PMID 25180155 · Dao et al., 2014 · Open in CIViC	civic
〃	Chronic Neutrophilic Leukemia	Predictive	D	Supports Sensitivity Response	4	accepted	EID6380 Demonstrates that activating mutations in CSF3R are sufficient to drive a myeloproliferative disorder resembling aCML and CNL that is sensitive to pharmacologic JAK inhibition. PMID 24081659 · Fleischman et al., 2013 · Open in CIViC	civic