{"entity":{"id":"kit","kind":"target","name":"KIT","aka":[],"tldr":"KIT mutation is the driver behind most gastrointestinal stromal tumours, and the reason imatinib turned a sarcoma with a median survival of about a year into a chronic disease.","summary":"KIT is the receptor tyrosine kinase for stem-cell factor, and activating mutations in it drive roughly 75 to 80 percent of gastrointestinal stromal tumours (GIST), with PDGFRA mutations accounting for about 10 percent more. Imatinib turned a sarcoma with a median survival of about a year into a chronic disease, and sunitinib, regorafenib, ripretinib and avapritinib (for PDGFRA D842V) form the sequence used as resistance mutations accumulate. KIT is also a target in systemic mastocytosis and is mutated in 2 to 3 percent of melanomas, enriched in acral and mucosal subtypes. Resistance arises through secondary KIT mutations that differ between patients, so later-line choice increasingly depends on the specific mutation. The plain version: KIT mutation is the driver behind most GIST, and blocking it is one of the clearest success stories of targeted therapy.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CD117","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CD117"}],"tags":["driver","kinase"],"related":["kit-d816v"],"cancers":["sarcoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":["bezuclastinib","al2846","chiauranib"],"companies":["blueprint-medicines","cogent-biosciences"],"institutions":[],"pathways":["ras-mapk","pi3k-akt-mtor","aml-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"KIT","role":[],"sources":[],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (KIT D816V) absent from normal cells. HPA KIT: RNA tissue enhanced (breast 79 nTPM); blood lineage group enriched (granulocytes 16 nTPM, NK-cells 11 nTPM); high antibody staining in 2 normal tissues; highest cancer staining testis cancer (3 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Skin cancer (all types), Myeloid neoplasms); approvals of single-target medicines aimed at it also list Leukaemia, not counted; Open Targets associates it with 17 specific cancer types at or above 0.5 (gastrointestinal stromal tumor, cutaneous mastocytosis, acute myeloid leukemia, chronic myeloid leukemia, hepatocellular carcinoma, mastocytosis and more). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"KIT D816V label threshold","url":"https://www.fda.gov/medical-devices/in-vitro-diagnostics/list-cleared-or-approved-companion-diagnostic-devices-in-vitro-and-imaging-tools","note":"D816V absent or unknown (negative selector for imatinib)"},{"label":"Human Protein Atlas KIT tissue","url":"https://www.proteinatlas.org/ENSG00000157404-KIT/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000157404 associations","url":"https://platform.opentargets.org/target/ENSG00000157404/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6342","ensembl":"ENSG00000157404","uniprot":"P10721","entrez":"3815","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yarden et al, EMBO J, 1987, \"Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2448137/","biology":"Stem-cell factor receptor tyrosine kinase.","whereFound":["GIST","Mastocytosis","Melanoma (mucosal/acral, rare)"],"targetClass":"kinase","prevalence":[{"cancerId":"sarcoma","pct":"75-80","measure":"GIST KIT mutation","source":"https://en.wikipedia.org/wiki/CD117","note":"PDGFRA in ~10%"},{"cancerId":"melanoma","pct":"2-3","measure":"KIT mutation (acral/mucosal enriched)","source":"https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018"}]},"route":"/targets/kit/","neighbours":{"biomarker":[{"id":"kit-d816v","kind":"biomarker","name":"KIT D816V","route":"/biomarkers/kit-d816v/"}],"cancer":[{"id":"acral-melanoma","kind":"cancer","name":"Acral melanoma","route":"/cancers/acral-melanoma/"},{"id":"advanced-melanoma","kind":"cancer","name":"Advanced melanoma (unresectable stage III and stage IV)","route":"/cancers/advanced-melanoma/"},{"id":"advanced-systemic-mastocytosis","kind":"cancer","name":"Advanced systemic mastocytosis (aggressive SM, SM with an associated haematological neoplasm, mast cell leukaemia)","route":"/cancers/advanced-systemic-mastocytosis/"},{"id":"gist","kind":"cancer","name":"Gastrointestinal stromal tumour (GIST)","route":"/cancers/gist/"},{"id":"gist-imatinib-resistant","kind":"cancer","name":"Imatinib-resistant GIST","route":"/cancers/gist-imatinib-resistant/"},{"id":"indolent-systemic-mastocytosis","kind":"cancer","name":"Indolent and smouldering systemic mastocytosis","route":"/cancers/indolent-systemic-mastocytosis/"},{"id":"gist-kit-exon-11","kind":"cancer","name":"KIT exon 11-mutant GIST","route":"/cancers/gist-kit-exon-11/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"mucosal-melanoma","kind":"cancer","name":"Mucosal melanoma","route":"/cancers/mucosal-melanoma/"},{"id":"gist-pdgfra-d842v","kind":"cancer","name":"PDGFRA D842V-mutant GIST","route":"/cancers/gist-pdgfra-d842v/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"},{"id":"systemic-mastocytosis","kind":"cancer","name":"Systemic mastocytosis","route":"/cancers/systemic-mastocytosis/"},{"id":"thymic-carcinoma","kind":"cancer","name":"Thymic carcinoma","route":"/cancers/thymic-carcinoma/"},{"id":"thymic-epithelial","kind":"cancer","name":"Thymoma and thymic carcinoma","route":"/cancers/thymic-epithelial/"},{"id":"vaginal-melanoma","kind":"cancer","name":"Vaginal melanoma","route":"/cancers/vaginal-melanoma/"},{"id":"vulvar-melanoma","kind":"cancer","name":"Vulvar melanoma","route":"/cancers/vulvar-melanoma/"}],"drug":[{"id":"al2846","kind":"drug","name":"AL2846","route":"/drugs/al2846/"},{"id":"anlotinib","kind":"drug","name":"Anlotinib","route":"/drugs/anlotinib/"},{"id":"avapritinib","kind":"drug","name":"Avapritinib","route":"/drugs/avapritinib/"},{"id":"bezuclastinib","kind":"drug","name":"Bezuclastinib","route":"/drugs/bezuclastinib/"},{"id":"chiauranib","kind":"drug","name":"Chiauranib","route":"/drugs/chiauranib/"},{"id":"imatinib","kind":"drug","name":"Imatinib","route":"/drugs/imatinib/"},{"id":"lenvatinib","kind":"drug","name":"Lenvatinib","route":"/drugs/lenvatinib/"},{"id":"midostaurin","kind":"drug","name":"Midostaurin","route":"/drugs/midostaurin/"},{"id":"nilotinib","kind":"drug","name":"Nilotinib","route":"/drugs/nilotinib/"},{"id":"pazopanib","kind":"drug","name":"Pazopanib","route":"/drugs/pazopanib/"},{"id":"pexidartinib","kind":"drug","name":"Pexidartinib","route":"/drugs/pexidartinib/"},{"id":"regorafenib","kind":"drug","name":"Regorafenib","route":"/drugs/regorafenib/"},{"id":"ripretinib","kind":"drug","name":"Ripretinib","route":"/drugs/ripretinib/"},{"id":"sunitinib","kind":"drug","name":"Sunitinib","route":"/drugs/sunitinib/"}],"company":[{"id":"blueprint-medicines","kind":"company","name":"Blueprint Medicines","route":"/companies/blueprint-medicines/"},{"id":"celldex","kind":"company","name":"Celldex Therapeutics","route":"/companies/celldex/"},{"id":"cogent-biosciences","kind":"company","name":"Cogent Biosciences","route":"/companies/cogent-biosciences/"}],"pathway":[{"id":"aml-signalling","kind":"pathway","name":"Acute myeloid leukaemia (KEGG map)","route":"/pathways/aml-signalling/"},{"id":"pi3k-akt-mtor","kind":"pathway","name":"PI3K / AKT / mTOR","route":"/pathways/pi3k-akt-mtor/"},{"id":"ras-mapk","kind":"pathway","name":"RAS / RAF / MEK / ERK (MAPK)","route":"/pathways/ras-mapk/"},{"id":"rtk-activation","kind":"pathway","name":"Receptor tyrosine kinase activation","route":"/pathways/rtk-activation/"}],"trial":[{"id":"insight-gist","kind":"trial","name":"INSIGHT","route":"/trials/insight-gist/"},{"id":"invictus","kind":"trial","name":"INVICTUS","route":"/trials/invictus/"},{"id":"ssgxviii","kind":"trial","name":"SSGXVIII/AIO (adjuvant imatinib in GIST)","route":"/trials/ssgxviii/"}],"pairing":[{"id":"ctdna-genotype-gist-tki","kind":"pairing","name":"ctDNA KIT genotyping → TKI selection in GIST","route":"/pairings/ctdna-genotype-gist-tki/"}],"technology":[{"id":"kinase-inhibitors","kind":"technology","name":"Small-molecule kinase inhibitors","route":"/technologies/kinase-inhibitors/"}],"person":[{"id":"charles-blanke","kind":"person","name":"Charles D. Blanke","route":"/people/charles-blanke/"},{"id":"george-demetri","kind":"person","name":"George D. Demetri","route":"/people/george-demetri/"},{"id":"jean-yves-blay","kind":"person","name":"Jean-Yves Blay","route":"/people/jean-yves-blay/"},{"id":"richard-carvajal","kind":"person","name":"Richard D. Carvajal","route":"/people/richard-carvajal/"},{"id":"kang-yoon-koo","kind":"person","name":"Yoon-Koo Kang","route":"/people/kang-yoon-koo/"}],"target":[{"id":"csf1r","kind":"target","name":"CSF1R","route":"/targets/csf1r/"},{"id":"pdgfra","kind":"target","name":"PDGFRA","route":"/targets/pdgfra/"}],"paper":[{"id":"paper-lemmon-schlessinger-rtk-signalling-cell-2010","kind":"paper","name":"Lemmon and Schlessinger 2010: cell signalling by receptor tyrosine kinases","route":"/key-papers/paper-lemmon-schlessinger-rtk-signalling-cell-2010/"}],"term":[{"id":"gist-risk-stratification","kind":"term","name":"GIST risk stratification (mitotic count, size, site; Miettinen and modified NIH criteria)","route":"/terms/gist-risk-stratification/"},{"id":"sarcoma-type","kind":"term","name":"Sarcoma (tissue type)","route":"/terms/sarcoma-type/"},{"id":"sdh-deficiency","kind":"term","name":"SDH deficiency (SDHB immunohistochemistry loss)","route":"/terms/sdh-deficiency/"}]}}