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| Profile Name | KIT Y553_K558del TSC1 G464fs |
| 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 |
|---|---|---|---|---|---|---|---|---|
| KIT Y553_K558del TSC1 G464fs | gastrointestinal stromal tumor | predicted - sensitive | Everolimus + Ripretinib | Case Reports/Case Series | Actionable | In a clinical case study, treatment with the combination of Qinlock (ripretinib) and Afinitor (everolimus) resulted in stable disease with a progression-free survival of 8.5 months in a patient with recurrent gastrointestinal stromal tumor harboring KIT Y553_K558del and TSC1 G464fs (PMID: 40700673; NCT0253467). | 40700673 |