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| Molecular Profile | CSF1R R549_E554delinsQ |
| Therapy | Pexidartinib |
| Indication/Tumor Type | Erdheim-Chester disease |
| Response Type | predicted - sensitive |
| Molecular Profile | Indication/Tumor Type | Response Type | 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 |
| PubMed Id | Reference Title | Details |
|---|---|---|
| (34978715) | Sustained, complete response to pexidartinib in a patient with CSF1R-mutated Erdheim-Chester disease. | Full reference... |