MSH6 germline loss-of-function in gastric produces dMMR/MSI-H phenotype. Pan- tumor MSI-H...
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| ID | BMA-MSH6-GERMLINE-GASTRIC |
|---|---|
| Type | Pertinence thérapeutique |
| État | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Maladies | DIS-GASTRIC |
| Sources | SRC-ESMO-GASTRIC-2024 SRC-NCCN-GASTRIC-2025 |
Faits relatifs à l ' action en justice
| Biomarqueur | BIO-DMMR-IHC |
|---|---|
| Variante | MSH6 germline loss-of-function (dMMR / MSI-H) |
| Maladie | DIS-GASTRIC |
| Niveau ESCAT | IA |
| Combinaisons recommandées | nivolumab + FOLFOX/CapeOX (1L MSI-H gastric, CheckMate-649), pembrolizumab + chemo (KEYNOTE-859), pembrolizumab monotherapy (pan-tumor MSI-H, 2L+) |
| Résumé des faits | MSH6 germline loss-of-function in gastric 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. 1L MSI-H gastric: nivolumab + chemo (CheckMate-649) and pembrolizumab + chemo (KEYNOTE-859) show enhanced benefit in MSI-H subgroup. Trastuzumab+pembro+chemo in HER2+ MSI-H (KEYNOTE-811). |
Notes
Germline MSH6 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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