KIT mutation
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BIO-KIT |
|---|---|
| Тип | Біомаркер |
| Синоніми | CD117 gene mutationKIT mutation (c-KIT / CD117 gene)c-KIT mutationМутація KIT |
| Статус | переглянуто 2026-04-27 | очікує клінічного підпису |
| Хвороби | DIS-AML DIS-GIST DIS-MASTOCYTOSIS DIS-MELANOMA |
| Джерела | SRC-ESMO-MELANOMA-2024 SRC-NCCN-MELANOMA-2025 SRC-ONCOKB |
Дані про біомаркер
| Тип біомаркера | gene_mutation |
|---|---|
| Деталі мутації | {"functional_impact": "Constitutive KIT tyrosine kinase activation", "gene": "KIT", "gene_hugo_id": "HGNC:6342", "hotspots": ["exon 11 deletions / insertions / point mutations (juxtamembrane — ~70% of GIST; imatinib-sensitive, best prognosis)", "exon 9 insertion (extracellular — ~10% of GIST; small-bowel; higher-dose imatinib 800 mg/day)", "D816V (exon 17, activation loop — ~95% of advanced systemic mastocytosis; imatinib-RESISTANT)", "exon 13 (V654A — secondary resistance to imatinib in GIST)"... |
| Вимірювання | MethodDNA-NGS (preferred — covers all relevant exons) OR Sanger (exon 11 + 9 + 13 + 17 directed) OR allele-specific PCR (D816V) Unitscategorical; variant + exon + VAF reported Sensitivity requirementD816V VAF can be very low in ASM peripheral blood — high-sensitivity ddPCR (LoD ~0.05%) preferred over Sanger |
| Пов’язані біомаркери | BIO-PDGFRA |
Нотатки
GIST: KIT мутація ~75–80%; PDGFRA ~10%; wild-type / SDH-deficient ~10–15%. Exon-генотип guides терапія (exon 11 → іматиніб 400; exon 9 → іматиніб 800 or сунитиніб; D842V → avapritinib only). поширений systemic mastocytosis: D816V drives the хвороба; іматиніб is протипоказаний in D816V (kinase-domain steric clash); мідостаурин (D-RIVE), avapritinib (PATHFINDER / EXPLORER), and ripretinib (selected) are active. Mucosal / acral меланома: ~15–20% KIT мутація — іматиніб responses in exon 11 / 13 mutants.
Де використовується
Algorithms
ALGO-ADVSM-1L- ALGO-ADVSM-1LALGO-GIST-1L- ALGO-GIST-1L
Diseases
DIS-GIST- Gastrointestinal stromal tumor (GIST)DIS-MASTOCYTOSIS- Advanced systemic mastocytosis (AdvSM)
Handbook Chapters
HB-MELANOMA-METASTATIC-1L- Metastatic melanoma: BRAF / IO first-line reasoning
Indications
IND-ADVSM-1L-AVAPRITINIB- IND-ADVSM-1L-AVAPRITINIBIND-GIST-1L-IMATINIB- IND-GIST-1L-IMATINIBIND-GIST-4L-RIPRETINIB- IND-GIST-4L-RIPRETINIBIND-MELANOMA-2L-KIT-IMATINIB- IND-MELANOMA-2L-KIT-IMATINIB
Questionnaires
QUEST-GIST-1L-STUB- Gastrointestinal stromal tumor — first lineQUEST-MASTOCYTOSIS-1L-STUB- Advanced systemic mastocytosis — first lineQUEST-MELANOMA-1L-STUB- Cutaneous melanoma — first line
Біомаркер
BIO-KIT-D816V- KIT D816V mutationBIO-PDGFRA- PDGFRA mutation
Клінічна застосовність
BMA-KIT-D816V-GIST- KIT D816V in GIST is rare as primary mutation (more typical of systemic mastocytosis) but...BMA-KIT-D816V-MASTOCYTOSIS- KIT D816V in advanced systemic mastocytosis (AdvSM — aggressive SM, SM-AHN, mast cell leu...BMA-KIT-EXON11-GIST- KIT exon 11 mutation in GIST: imatinib 400 mg/day is standard 1L (B2222, Demetri NEJM 200...BMA-KIT-EXON13-17-GIST- Secondary KIT mutations after imatinib failure cluster in exon 13/14 (ATP-binding pocket...BMA-KIT-EXON9-GIST- KIT exon 9 GIST has shorter PFS on imatinib 400 mg vs exon 11. Imatinib 800 mg/day (split...BMA-KIT-MUTATION-AML- KIT mutation in core-binding-factor (CBF) AML (t(8;21) / inv(16)) is enriched (~25-30%) a...BMA-KIT-MUTATION-MELANOMA- KIT mutation in mucosal / acral / chronic-sun-damaged melanoma (~15-20% of these subtypes...
Тривожна ознака
RF-ADVSM-KIT-D816V- KIT D816V activating point mutation (exon 17, activation loop) in advanced systemic masto...RF-GIST-HIGH-RISK-BIOLOGY- Adverse genotype or anatomic risk in GIST: PDGFRA D842V (imatinib-resistant — avapritinib...