KIT D816V in GIST is rare as primary mutation (more typical of systemic mastocytosis) but...
Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.
| ID | BMA-KIT-D816V-GIST |
|---|---|
| Type | Pertinence thérapeutique |
| État | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Maladies | DIS-GIST |
| Sources | SRC-CIVIC SRC-NCCN-MELANOMA-2025 |
Faits relatifs à l ' action en justice
| Biomarqueur | BIO-KIT |
|---|---|
| Variante | D816V (circuit d'activation, exon 17 — rare dans le GIST primaire; résistance secondaire) |
| Maladie | DIS-GIST |
| Niveau ESCAT | IIA |
| Combinaisons recommandées | ripretinib (post-imatinib/sunitinib/regorafenib failure with D816V or other activation-loop secondary resistance), avapritinib (off-label / trial for KIT D816V GIST) |
| Contre-indiqué en monothérapie | imatinib (résistant à la D816V), sunitinib(résiste à laD816 V — suniinib est le meilleur pour les mutations secondaires de poche ATP) |
| Résumé des faits | KIT D816V in GIST is rare as primary mutation (more typical of systemic mastocytosis) but emerges as a secondary resistance mutation under imatinib pressure. Confers imatinib + sunitinib resistance. Ripretinib (INVICTUS, Blay Lancet Oncol 2020 — switch- control inhibitor with broad activation-loop coverage) and avapritinib (NAVIGATOR; FDA-approved in PDGFRA D842V and ASM) retain activity vs D816V. |
Notes
ESCAT IIA. OncoKB Level R1 (resistance to imatinib/sunitinib). Source- gap as DIS-GIST plus SRC-INVICTUS / SRC-NAVIGATOR not yet ingested. ctDNA monitoring useful to detect emerging D816V before radiographic progression.
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No reverse references found in the YAML corpus.