Biomarker · Gene alteration

KIT mutation

Activating KIT mutations (exon 9, 11, 13, 17 and others) detected by sequencing of tumor tissue or marrow; used as a predictive marker for KIT inhibitors in gastrointestinal stromal tumor and as a diagnostic marker in systemic mastocytosis.

CI-BIO-00000050KIT graph →NCIt C39712

Also calledc-KIT mutation · KIT exon 11 · KIT D816V · CD117

Derived

Associated cancers (15)

Cancers mapped in ACCEPTED CIViC predictive, prognostic or diagnostic items whose variant (molecular markers) or gene (gene-level markers) is in this biomarker's scope. Counts by type and native level; each row links to the cancer's evidence tab.

Computedrule biomarker-links-v1

Cancer	Items	Predictive	Prognostic	Diagnostic	Levels A / B / C / D / E
Gastrointestinal Stromal Tumor	69	64	4	1	2 / 19 / 23 / 25 / 0
Malignant Neoplasm	15	15	—	—	0 / 0 / 0 / 15 / 0
Melanoma	9	9	—	—	0 / 2 / 4 / 3 / 0
Acute Myeloid Leukemia	4	3	1	—	0 / 2 / 0 / 2 / 0
Systemic Mastocytosis

Derived

Drugs with predictive evidence (14)

Therapies named in in-scope PREDICTIVE CIViC items, plus targets of PREDICTS_RESPONSE_TO knowledge edges from in-scope variants. Sensitivity and resistance are counted separately and never merged into a verdict.

Computedrule biomarker-links-v1

Drug	CIViC items	Sensitivity	Resistance	Best level	Edges (S / R)	Cancer context
ImatinibSmall Molecule	61	37	24	A	31 / 21	Anal Melanoma, Chronic Leukemia, Chronic Myeloid Leukemia, BCR-ABL1 Positive, Gastrointestinal Stromal Tumor +7
SunitinibSmall Molecule	30	15

Curated evidence

Predictive evidence items (105)

ACCEPTED CIViC predictive items in scope, grouped by molecular profile and therapy with native level, direction and cancer context. 50 per page.

civicCuratedShowing 1–50 of 105 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
KIT N822K5
Ponatinib

Regulatory

Approvals mentioning the linked drugs (253)

Approval records of the derived drug set, plus records whose indication text names this biomarker. Each record names its authority, jurisdiction, indication text and status — a drug approved in one jurisdiction for one indication is not 'approved' in general, and an approval listed here is not necessarily restricted to this biomarker.

Computedrule biomarker-links-v1

openfda

Clinical trials

Active trials (63)

Trials with an active ClinicalTrials.gov status, an intervention mapped to a derived drug and a condition mapped to an associated cancer. 35 recruiting · 11 active phase 3 · 501 in any status. Most recently updated first, 50 per page.

Computedrule biomarker-links-v1

clinicaltrialsPublishedShowing 1–50 of 63 active studies · status and phase as posted by the registrant; each row links to the study record.

NCT	Title	Status	Phase	Enrollment (n)	Sponsor	Countries	Last update	Source
NCT07269470	Phase II Study Assessing the Safety and Efficacy of Dasatinib in Combination With Ropeginterferon in Patients With Newly Diagnosed Chronic Myeloid Leukemia in Chronic Phase	recruiting	Phase 2

Literature

Linked publications (44)

Publications linked to the scope gene(s) through PubMed entity edges; 25 per page, newest first.

pubmedPublishedShowing 1–25 of 44 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor.
· J Clin Oncol · 2003 · PMID 14645423 · validated civic_curation pubmed
KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours.
· Eur J Cancer · 2006 · PMID 16624552 · validated civic_curation pubmed
Molecular correlates of imatinib resistance in gastrointestinal stromal tumors.
· J Clin Oncol · 2006 · PMID 16954519 · validated civic_curation pubmed
Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study.
· Blood · 2006 · PMID 16384925 · validated

KIT Exon 11 Mutation5
Imatinib	Gastrointestinal Stromal Tumor	Predictive	A	Supports Sensitivity Response	4	accepted	EID654 This prospective study of 127 pretreatment patients with metastatic gastrointestinal stromal tumors (GISTs) examined the relationship between kinase (KIT and PDGFRA) genotype and treatment outcome for… (full text at CIViC) PMID 14645423 · Heinrich et al., 2003 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	B	Supports Sensitivity Response	4	accepted	EID2471 This prospective study of 397 patients with incurable (i.e. metastatic or unresectable) CD117-positive Gastrointestinal stromal tumors (GISTs) examined the relationship between KIT genotype and treatm… (full text at CIViC) PMID 18955451 · Heinrich et al., 2008 · Open in CIViC	civic
Regorafenib Anhydrous	Gastrointestinal Stromal Tumor	Predictive	B	Supports Sensitivity Response	2	accepted	EID4599 This international, placebo controlled prospective phase 3 clinical trial (NCT01271712) examined safety and efficacy of regorafenib in patients with metastatic and/or unresectable gastrointestinal str… (full text at CIViC) PMID 23177515 · Demetri et al., 2013 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	B	Supports Sensitivity Response	2	accepted	EID4629 This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and efficacy in advanced gastrointestinal stromal tumor (GIST) patients who failed previous treatments wi… (full text at CIViC) PMID 22614970 · George et al., 2012 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	B	Supports Sensitivity Response	3	accepted	EID6377 This phase II clinical trial of regorafenib (NCT01068769) examined the long term safety and efficacy of regorafenib in patients with metastatic and/or unresectable gastrointestinal stromal tumors (GIS… (full text at CIViC) PMID 27371698 · Ben-Ami et al., 2016 · Open in CIViC	civic

KIT Exon 9 Mutation6
Imatinib	Gastrointestinal Stromal Tumor	Predictive	A	Supports Sensitivity Response	4	accepted	EID1221 In a phase III clinical trial comparing different doses of imatinib in GIST patients, KIT exon 9 mutations were associated with significantly improved progression free survival (P=0.0013) and a 61% re… (full text at CIViC) PMID 16624552 · Debiec-Rychter et al., 2006 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	B	Supports Sensitivity Response	3	accepted	EID2466 This prospective study of 127 patients with metastatic gastrointestinal stromal tumors (GISTs) examined the relationship between KIT genotype and treatment outcome for patients enrolled in a randomize… (full text at CIViC) PMID 14645423 · Heinrich et al., 2003 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	B	Supports Reduced Sensitivity	2	accepted	EID2477 This prospective study of 397 patients with incurable (i.e. metastatic or unresectable) CD117-positive Gastrointestinal stromal tumors (GISTs) examined the relationship between KIT genotype and treatm… (full text at CIViC) PMID 18955451 · Heinrich et al., 2008 · Open in CIViC	civic
Regorafenib Anhydrous	Gastrointestinal Stromal Tumor	Predictive	B	Supports Reduced Sensitivity	2	accepted	EID4139 This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and efficacy in advanced gastrointestinal stromal tumor (GIST) patients who failed previous treatments wi… (full text at CIViC) PMID 22614970 · George et al., 2012 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	B	Supports Sensitivity Response	2	accepted	EID4628 This international, placebo controlled prospective phase 3 clinical trial (NCT01271712) examined safety and efficacy of regorafenib in patients with metastatic and/or unresectable gastrointestinal str… (full text at CIViC) PMID 23177515 · Demetri et al., 2013 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	C	Supports Reduced Sensitivity	3	accepted	EID4104 This phase II clinical trial of regorafenib (NCT01068769) examined the long term safety and efficacy of regorafenib monotherapy in patients with metastatic and/or unresectable gastrointestinal stromal… (full text at CIViC) PMID 27371698 · Ben-Ami et al., 2016 · Open in CIViC	civic

KIT T670I3
Imatinib	Gastrointestinal Stromal Tumor	Predictive	C	Supports Resistance	3	accepted	EID2924 147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical study of imatinib (CSTI571-B2222). Specimens from 43 pretreatment and/or imatinib-resistant tumors wer… (full text at CIViC) PMID 16954519 · Heinrich et al., 2006 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	D	Supports Resistance	5	accepted	EID7416 A preclinical study tested the effects of a tyrosine kinase inhibitor (TKI) on Ba/F3 cell lines with representative primary imatinib-sensitizing mutation del 557-558, which induced IL-3 independent gr… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
Ponatinib + SunitinibSubstitutes	Gastrointestinal Stromal Tumor	Predictive	D	Does Not Support Resistance	5	accepted	EID7417 Several preclinical studies tested the effects of various tyrosine kinase inhibitors (TKIs) on Ba/F3 cell lines with representative primary ponatinib and sunitinib sensitizing mutation del 557-558, wh… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic

KIT V559D2
Imatinib	Gastrointestinal Stromal Tumor	Predictive	C	Supports Sensitivity Response	3	accepted	EID3028 A patient with an uncontrolled relapse of c-kit-positive mesenchymal tumor in descending part of the duodenum had received 400mg Imatinib daily for more than 10 years at the time of publication. He re… (full text at CIViC) PMID 22114577 · Cameron et al., 2011 · Open in CIViC	civic
Imatinib + Ponatinib + RegorafenibSubstitutes	Gastrointestinal Stromal Tumor	Predictive	D	Supports Sensitivity Response	2	accepted	EID4459 In an in vitro kinase study, a KIT V559D primary activating mutant kinase demonstrated sensitivity to imatinib (IC50: 36nmol/L vs. 640nmol/L), regorafenib (IC50: 57nmol/L vs. 533nmol/L), and ponatinib… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic

Drug	Jurisdiction · authority	Cancer	Indication	Status	Approval date	Source
Sunitinib	US FDA	—	treatment of adult patients with gastrointestinal stromal tumor (GIST) after disease progression on or intolerance to imatinib mesylate. • adjuvant treatment of adult patients at high risk of recurrent RCC following nephrectomy.	approved	Jan 26, 2006	openfda
Sunitinib	US FDA	Renal Cell Carcinoma	treatment of adult patients with advanced renal cell carcinoma (RCC).	approved	Jan 26, 2006	openfda
Sunitinib	US FDA	Primitive Neuroectodermal Tumor	treatment of progressive, well-differentiated pancreatic neuroendocrine tumors (pNET) in adult patients with unresectable locally advanced or metastatic disease.	approved	Jan 26, 2006	openfda