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| Profile Name | CD274 pos MSH2 E226* MSH2 E580* MSH2 A913fs MSH2 neg MSH6 R361H MSH6 neg |
| Gene Variant Detail |
MSH2 E226* (loss of function - predicted) MSH2 E580* (loss of function - predicted) MSH2 negative (loss of function) |
| Relevant Treatment Approaches |
| Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|---|
| CD274 pos MSH2 E226* MSH2 E580* MSH2 A913fs MSH2 neg MSH6 R361H MSH6 neg | renal pelvis transitional cell carcinoma | predicted - sensitive | Durvalumab + MEDI0680 | Case Reports/Case Series | Actionable | In a Phase I trial, treatment with the combination of Imfinzi (durvalumab) and MEDI0680 (AMP-514) resulted in a complete response ongoing for at least 11 months in a patient with metastatic MSH2 and MSH6-negative, CD274 (PD-L1)-positive renal pelvis urothelial carcinoma harboring MSH2 A913fs, E226*, and E580*, and MSH6 R361H (PMID: 26674132; NCT02118337). | 26674132 |