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| Profile Name | CSF1R S560_P566del CSF1R S938_Y969del |
| Gene Variant Detail | |
| Relevant Treatment Approaches |
| Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|---|
| CSF1R S560_P566del CSF1R S938_Y969del | Erdheim-Chester disease | predicted - sensitive | Pexidartinib | Case Reports/Case Series | Actionable | In a clinical case study, Turalio (pexidartinib) treatment resulted in a clinical complete response and a partial response on imaging in a patient with Erdheim-Chester disease primarily involving the CNS harboring CSF1R S560_P566del and S938_Y969del (PMID: 39576953). | 39576953 |