Gene

CSF1R

colony stimulating factor 1 receptor

Explore in graph →CI-GENE-00042318HGNC:2433 ENSG00000182578 NCBI 1436 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (10)

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

civicCuratedShowing 1–10 of 10 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
CSF1R Expression3
Pexidartinib	GlioblastomaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	4	submitted

Cohorts

Alteration frequency by cohort (108)

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

cbioportalObserved108 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
Thymoma (TCGA, PanCancer Atlas) thym_tcga_pan_can_atlas_2018	Thymoma	Ssm

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.

Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.
· Blood · 2017 · PMID 28408464 · validated civic_curation pubmed
Efficacy of tyrosine kinase inhibitors in Ph-like acute lymphoblastic leukemia harboring ABL-class rearrangements.
· Blood · 2019 · PMID 31434701 · validated civic_curation pubmed
RNA-seq identifies clinically relevant fusion genes in leukemia including a novel MEF2D/CSF1R fusion responsive to imatinib.
· Leukemia · 2014 · PMID 24186003 · validated civic_curation pubmed

CSF1R RCSD1::ABL21
(diagnostic)	B Lymphoblastic Leukemia/LymphomaCURATED_BROADER	Diagnostic	C	Supports Positive	3	rejected	EID9723 Type evidence here PMID 33197935 · Schwab et al., 2021 · Open in CIViC	civic

CSF1R RCSD1::ABL21

(diagnostic)

B Lymphoblastic Leukemia/LymphomaCURATED_BROADER

Diagnostic

Supports Positive

rejected

EID9723

Type evidence here

PMID 33197935 · Schwab et al., 2021 · Open in CIViC

civic

CSF1R Fusion3
Imatinib	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Predictive	C	Supports Sensitivity Response	3	accepted	EID9360 This study describes a cohort of 24 patients with BCR-ABL1-like B-ALL and ABL-class kinase rearrangement exposed to TKI frontline or at relapse, who showed favorable MRD response and outcome. Specific… (full text at CIViC) PMID 31434701 · Tanasi et al., 2019 · Open in CIViC	civic
GW-2580 + ImatinibSubstitutes	Acute Lymphoblastic Leukemia	Predictive	D	Supports Sensitivity Response	3	accepted	EID403 Cell lines with MEF2D-CSF1R fusion show sensitivity to the tyrosine kinase inhibitors Imatinib and GW-2580. PMID 24186003 · Lilljebjörn et al., 2014 · Open in CIViC	civic
Panobinostat	B Lymphoblastic Leukemia/LymphomaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	3	submitted	EID9359 In this study, 560 cases of B-ALL were analyzed by RNAseq, 22 (3.9%) of which (3.9%) demonstrated rearrangements of MEF2D at chromosome 1q21–22, encoding myocyte enhancer factor 2D, representing 15 of… (full text at CIViC) PMID 27824051 · Gu et al., 2016 · Open in CIViC	civic

CSF1R Fusion3

Imatinib

B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like

Predictive

Supports Sensitivity Response

accepted

EID9360

This study describes a cohort of 24 patients with BCR-ABL1-like B-ALL and ABL-class kinase rearrangement exposed to TKI frontline or at relapse, who showed favorable MRD response and outcome. Specific… (full text at CIViC)

PMID 31434701 · Tanasi et al., 2019 · Open in CIViC

civic

GW-2580 + ImatinibSubstitutes

Acute Lymphoblastic Leukemia

Predictive

Supports Sensitivity Response

accepted

EID403

Cell lines with MEF2D-CSF1R fusion show sensitivity to the tyrosine kinase inhibitors Imatinib and GW-2580.

PMID 24186003 · Lilljebjörn et al., 2014 · Open in CIViC

civic

Panobinostat

B Lymphoblastic Leukemia/LymphomaCURATED_BROADER

Predictive

Supports Sensitivity Response

submitted

EID9359

In this study, 560 cases of B-ALL were analyzed by RNAseq, 22 (3.9%) of which (3.9%) demonstrated rearrangements of MEF2D at chromosome 1q21–22, encoding myocyte enhancer factor 2D, representing 15 of… (full text at CIViC)

PMID 27824051 · Gu et al., 2016 · Open in CIViC

civic

CSF1R Fusion2
(prognostic)	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Prognostic	B	Supports Better Outcome	3	submitted	EID9767 Patients originated from 4 international (UK, Netherlands, Germany, and US) studies, and included 16 B-cell precursor ALL (B-ALL) patients (aged 2-29 years) with SSBP2-CSF1R fusions arising from diffe… (full text at CIViC) PMID 33197935 · Schwab et al., 2021 · Open in CIViC	civic
(diagnostic)	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	B	Supports Positive	2	submitted	EID9803 A multicenter, retrospective study that included 1389 consecutively enrolled, newly diagnosed patients with B-lineage acute lymphoblastic leukemia (B-ALL). There were 3 patients that harbored SSPB2-CS… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC	civic

CSF1R Fusion2

(prognostic)

B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like

Prognostic

Supports Better Outcome

submitted

EID9767

Patients originated from 4 international (UK, Netherlands, Germany, and US) studies, and included 16 B-cell precursor ALL (B-ALL) patients (aged 2-29 years) with SSBP2-CSF1R fusions arising from diffe… (full text at CIViC)

PMID 33197935 · Schwab et al., 2021 · Open in CIViC

civic

(diagnostic)

B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like

Diagnostic

Supports Positive

submitted

EID9803

A multicenter, retrospective study that included 1389 consecutively enrolled, newly diagnosed patients with B-lineage acute lymphoblastic leukemia (B-ALL). There were 3 patients that harbored SSPB2-CS… (full text at CIViC)

PMID 28408464 · Reshmi et al., 2017 · Open in CIViC

civic

CSF1R Fusion1
(diagnostic)	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	3	accepted	EID9361 This study included 1389 cases of high-risk pediatric B-ALL, of which 284 were identified by TaqMan Low Density Array to have a BCR-ABL1-like (Ph-like) gene expression signature. RT-PCR or RNAseq perf… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC	civic

CSF1R Fusion1

(diagnostic)

B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like

Diagnostic

Supports Positive

accepted

EID9361

This study included 1389 cases of high-risk pediatric B-ALL, of which 284 were identified by TaqMan Low Density Array to have a BCR-ABL1-like (Ph-like) gene expression signature. RT-PCR or RNAseq perf… (full text at CIViC)

PMID 28408464 · Reshmi et al., 2017 · Open in CIViC

civic