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KIT D816V in GIST is rare as primary mutation (more typical of systemic mastocytosis) but...

Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.

IDBMA-KIT-D816V-GIST
TypeActionability
Statusreviewed 2026-04-27 | pending_clinical_signoff | actionability review required
DiseasesDIS-GIST
SourcesSRC-CIVIC SRC-NCCN-MELANOMA-2025

Actionability Facts

BiomarkerBIO-KIT
VariantD816V (activation loop, exon 17 — rare in GIST primary; secondary resistance)
DiseaseDIS-GIST
ESCAT tierIIA
Recommended combinationsripretinib (post-imatinib/sunitinib/regorafenib failure with D816V or other activation-loop secondary resistance), avapritinib (off-label / trial for KIT D816V GIST)
Contraindicated monotherapyimatinib (D816V resistant), sunitinib (D816V resistant — sunitinib best for ATP-binding-pocket secondary mutations)
Evidence summaryKIT 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.

Used By

No reverse references found in the YAML corpus.