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| Profile Name | RB1 I124Rfs*6 RB1 del SMARCB1 loss |
| 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 |
|---|---|---|---|---|---|---|---|---|
| RB1 I124Rfs*6 RB1 del SMARCB1 loss | epithelioid sarcoma | predicted - resistant | Tazemetostat | Case Reports/Case Series | Actionable | In a clinical case study, a patient with SMARCB1-deficient epithelioid sarcoma progressed on treatment with Tazverik (tazemetostat) and was found to have acquired a hemizygous deletion of RB1 and RB1 I124Rfs*6 (PMID: 38315003). | 38315003 |