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Gene Symbol CSF1R
Synonyms BANDDOS | C-FMS | CD115 | CSF-1R | CSFR | FIM2 | FMS | HDLS | HDLS1 | M-CSF-R
Gene Description CSF1R, colony stimulating factor 1 receptor, is a tyrosine kinase and receptor for CSF1 and IL34, which upon ligand binding activates PI3K-AKT-mTOR, RAS-RAF-MEK-ERK and STAT signaling pathways (PMID: 22186992). CSF1R is expressed by tumor-associated macrophages to induce tumor promotion (PMID: 30065206) and therefore, a number of therapies to block Csf1r are under development (PMID: 28716061), and Csf1r activating mutations have been reported in histiocytic neoplasms (PMID: 31768065).

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF1R mutant Erdheim-Chester disease sensitive Pexidartinib Guideline Actionable Turalio (pexidartinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring CSF1R mutations (NCCN.org). detail...
CSF1R over exp tenosynovial giant cell tumor sensitive Pexidartinib Phase I Actionable In a Phase I trial, PLX3397 reduced tenosynovial giant cell tumor volume in patients with overexpression of Csf1r (PMID: 26222558). 26222558
CSF1R positive Hodgkin's lymphoma sensitive Sorafenib Preclinical Actionable In a preclinical study, Nexavar (sorafenib) inhibited CSF1R phosphorylation and induced apoptosis in Hodgkin's lymphoma cells in culture (PMID: 21517818) 21517818
CSF1R positive Hodgkin's lymphoma not applicable N/A Clinical Study Prognostic In multiple clinical studies, elevated levels of CSF1R expression were associated with a worse survival in patients with Hodgkin's lymphoma (PMID: 24619759, PMID: 26066800, PMID: 22955918). 24619759 26066800 22955918
CSF1R positive chronic myelomonocytic leukemia predicted - sensitive NMS-P088 Preclinical - Patient cell culture Actionable In a preclinical study, NMS-P088 inhibited proliferation of Csf1r-expressing blasts derived from chronic myelomonocytic leukemia patients (Proceedings of the American Association for Cancer Research, Vol 60, Mar 2019, Abstract #1324). detail...
BRAF V600E CSF1R pos melanoma sensitive Pexidartinib + Vemurafenib Preclinical Actionable In a preclinical study, a melanoma mouse model harboring BRAF V600E treated with Zelboraf (vemurafenib) demonstrated a greater drug induced sensitivity when treatment was combined with PLX3397, resulting in increased infiltration of lymphocytes via Csf1r inhibition and elevated antitumor activity (PMID: 25939769). 25939769
CSF1R R549_E554delinsQ Erdheim-Chester disease predicted - sensitive Pexidartinib Case Reports/Case Series Actionable In a clinical case study, Turalio (pexidartinib) resulted in a complete clinical and metabolic response lasting more than 1.5 years in a patient with Erdheim-Chester disease harboring CSF1R R549_E554delinsQ (PMID: 34978715). 34978715
CSF1R W450_E456del Advanced Solid Tumor sensitive Pexidartinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing CSF1R W450_E456del demonstrated sensitivity to treatment with Turalio (pexidartinib) in culture (PMID: 31768065). 31768065
CSF1R W450_E456del Advanced Solid Tumor sensitive BLZ945 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing CSF1R W450_E456del demonstrated sensitivity to treatment with BLZ945 in culture (PMID: 31768065). 31768065
CSF1R Y546_K551del Advanced Solid Tumor sensitive Pexidartinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing CSF1R Y546_K551del demonstrated sensitivity to treatment with Turalio (pexidartinib) in culture (PMID: 31768065). 31768065
CSF1R Y546_K551del Advanced Solid Tumor sensitive BLZ945 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing CSF1R Y546_K551del demonstrated sensitivity to treatment with BLZ945 in culture (PMID: 31768065). 31768065
CSF1R Y561_I564del Advanced Solid Tumor sensitive Pexidartinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing CSF1R Y561_I564del demonstrated sensitivity to treatment with Turalio (pexidartinib) in culture (PMID: 31768065). 31768065
CSF1R Y561_I564del Advanced Solid Tumor sensitive BLZ945 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing CSF1R Y561_I564del demonstrated sensitivity to treatment with BLZ945 in culture (PMID: 31768065). 31768065
CSF1R Y571D myeloid leukemia sensitive Imatinib Preclinical Actionable In a preclinical study, CSFR1 Y571D conferred sensitivity to Gleevec (imatinib) in myeloid cell lines in culture (PMID: 18971950). 18971950