MSH2 germline loss-of-function in urothelial produces dMMR/MSI-H phenotype. Pan-tumor MSI...
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| ID | BMA-MSH2-GERMLINE-UROTHELIAL |
|---|---|
| Type | Pertinence thérapeutique |
| État | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Maladies | DIS-UROTHELIAL |
| Sources | SRC-CIVIC SRC-EAU-PROSTATE-2024 SRC-NCCN-BLADDER-2025 |
Faits relatifs à l ' action en justice
| Biomarqueur | BIO-DMMR-IHC |
|---|---|
| Variante | MSH2 germline loss-of-function (dMMR / MSI-H) |
| Maladie | DIS-UROTHELIAL |
| Niveau ESCAT | IA |
| Combinaisons recommandées | pembrolizumab monotherapy (pan-tumor MSI-H, FDA 2017), standard urothelial therapy (cisplatin or ICI 1L per PD-L1) |
| Résumé des faits | MSH2 germline loss-of-function in urothelial produces dMMR/MSI-H phenotype. Pan-tumor MSI-H ICI eligibility (pembrolizumab per KEYNOTE-158, dostarlimab per GARNET) supersedes tumor-specific lines via tissue-agnostic FDA approval. MSI-H in urothelial is rare (~3-5%); pembrolizumab tissue-agnostic applies. |
Notes
Germline MSH2 loss → cascade testing mandatory (Lynch syndrome). Family meets Amsterdam/Bethesda criteria. Pan-tumor MSI-H ICI eligibility supersedes tumor- specific lines.
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