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| Profile Name | CSF1R R549_E554delinsQ |
| 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 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 |