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
NCT02465060	Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma (The MATCH Screening Trial)	active not 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
Imatinib	US FDA	—	Efficacy supplement 2005-03-14 (see label)	approved	Mar 14, 2005	openfda
Imatinib	US FDA	—	Efficacy supplement 2003-12-08 (see label)	approved	Dec 8, 2003	openfda
Imatinib	US FDA	—	Efficacy supplement 2003-05-20 (see label)	approved	May 20, 2003	openfda
Imatinib	US FDA	Malignant Gastrointestinal Stromal Tumor	Patients with Kit (CD117) positive unresectable and/or metastatic malignant gastrointestinal stromal tumors (GIST).	approved	Apr 18, 2003	openfda
Imatinib	US FDA	Chronic Eosinophilic Leukemia, Not Otherwise Specified	Adult patients with hypereosinophilic syndrome (HES) and/or chronic eosinophilic leukemia (CEL) who have the FIP1L1-PDGFRα fusion kinase (mutational analysis or fluorescence in situ hybridization [FISH] demonstration of CHIC2 allele deletion) and for patients with HES and/or CEL who are FIP1L1-PDGFRα fusion kinase negative or unknown.	approved	Apr 18, 2003	openfda
Imatinib	US FDA	Acute Lymphoblastic Leukemia	Adult patients with relapsed or refractory Philadelphia chromosome positive acute lymphoblastic leukemia (Ph+ ALL).	approved	Apr 18, 2003	openfda
Imatinib	US FDA	Acute Lymphoblastic Leukemia	Pediatric patients with newly diagnosed Philadelphia chromosome positive acute lymphoblastic leukemia (Ph+ ALL) in combination with chemotherapy.	approved	Apr 18, 2003	openfda
Imatinib	US FDA	—	Newly diagnosed adult and pediatric patients with Philadelphia chromosome positive chronic myeloid leukemia (Ph+ CML) in chronic phase. • Patients with Philadelphia chromosome positive chronic myeloid leukemia (Ph+ CML) in blast crisis (BC), accelerated phase (AP), or in chronic phase (CP) after failure of interferon-alpha therapy. • Adult patients with unresectable, recurrent and/or metastatic dermatofibrosarcoma protuberans (DFSP). • Adjuvant treatment of adult patients following resection of Kit (CD117) positive GIST.	approved	Apr 18, 2003	openfda
Imatinib	US FDA	Myelodysplastic/Myeloproliferative Neoplasm	Adult patients with myelodysplastic/myeloproliferative diseases (MDS/MPD) associated with platelet-derived growth factor receptor (PDGFR) gene re-arrangements.	approved	Apr 18, 2003	openfda
Imatinib	US FDA	Aggressive Systemic Mastocytosis	Adult patients with aggressive systemic mastocytosis (ASM) without the D816V c-Kit mutation or with c-Kit mutational status unknown.	approved	Apr 18, 2003	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2016-08-25 (see label)	approved	Aug 25, 2016	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2015-01-30 (see label)	approved	Jan 30, 2015	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2013-01-25 (see label)	approved	Jan 25, 2013	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2012-01-31 (see label)	approved	Jan 31, 2012	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2011-04-01 (see label)	approved	Apr 1, 2011	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2009-05-27 (see label)	approved	May 27, 2009	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2008-12-19 (see label)	approved	Dec 19, 2008	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2008-09-26 (see label)	approved	Sep 26, 2008	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2007-09-13 (see label)	approved	Sep 13, 2007	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2006-10-19 (see label)	approved	Oct 19, 2006	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2006-10-19 (see label)	approved	Oct 19, 2006	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2006-10-19 (see label)	approved	Oct 19, 2006	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2006-10-19 (see label)	approved	Oct 19, 2006	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2006-10-19 (see label)	approved	Oct 19, 2006	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2006-09-27 (see label)	approved	Sep 27, 2006	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2005-10-20 (see label)	approved	Oct 20, 2005	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2005-03-14 (see label)	approved	Mar 14, 2005	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2003-12-08 (see label)	approved	Dec 8, 2003	openfda
Imatinib Mesylate	US FDA	—	Efficacy supplement 2003-05-20 (see label)	approved	May 20, 2003	openfda
Imatinib Mesylate	US FDA	Acute Lymphoblastic Leukemia	Pediatric patients with newly diagnosed Philadelphia chromosome positive acute lymphoblastic leukemia (Ph+ ALL) in combination with chemotherapy.	approved	Apr 18, 2003	openfda
Imatinib Mesylate	US FDA	Chronic Eosinophilic Leukemia, Not Otherwise Specified	Adult patients with hypereosinophilic syndrome (HES) and/or chronic eosinophilic leukemia (CEL) who have the FIP1L1-PDGFRα fusion kinase (mutational analysis or fluorescence in situ hybridization [FISH] demonstration of CHIC2 allele deletion) and for patients with HES and/or CEL who are FIP1L1-PDGFRα fusion kinase negative or unknown.	approved	Apr 18, 2003	openfda
Imatinib Mesylate	US FDA	Malignant Gastrointestinal Stromal Tumor	Patients with Kit (CD117) positive unresectable and/or metastatic malignant gastrointestinal stromal tumors (GIST).	approved	Apr 18, 2003	openfda
Imatinib Mesylate	US FDA	Acute Lymphoblastic Leukemia	Adult patients with relapsed or refractory Philadelphia chromosome positive acute lymphoblastic leukemia (Ph+ ALL).	approved	Apr 18, 2003	openfda
Imatinib Mesylate	US FDA	—	Newly diagnosed adult and pediatric patients with Philadelphia chromosome positive chronic myeloid leukemia (Ph+ CML) in chronic phase. • Patients with Philadelphia chromosome positive chronic myeloid leukemia (Ph+ CML) in blast crisis (BC), accelerated phase (AP), or in chronic phase (CP) after failure of interferon-alpha therapy. • Adult patients with unresectable, recurrent and/or metastatic dermatofibrosarcoma protuberans (DFSP). • Adjuvant treatment of adult patients following resection of Kit (CD117) positive GIST.	approved	Apr 18, 2003	openfda
Imatinib Mesylate	US FDA	Aggressive Systemic Mastocytosis	Adult patients with aggressive systemic mastocytosis (ASM) without the D816V c-Kit mutation or with c-Kit mutational status unknown.	approved	Apr 18, 2003	openfda
Imatinib Mesylate	US FDA	Myelodysplastic/Myeloproliferative Neoplasm	Adult patients with myelodysplastic/myeloproliferative diseases (MDS/MPD) associated with platelet-derived growth factor receptor (PDGFR) gene re-arrangements.	approved	Apr 18, 2003	openfda
Midostaurin	CA Health Canada	—	Marketed in Canada as RYDAPT (DIN 02466236) under ATC L01EX10 MIDOSTAURIN. Indications are not published in the Drug Product Database — see the Health Canada Product Monograph.	approvedsource: Marketed	Sep 8, 2017	health-canada-dpd
Midostaurin	EU EMA	Acute Myeloid Leukemia	Rydapt is indicated: in combination with standard daunorubicin and cytarabine induction and high dose cytarabine consolidation chemotherapy, and for patients in complete response followed by Rydapt single agent maintenance therapy, for adult patients with newly diagnosed acute myeloid leukaemia (AML) who are FLT3 mutation positive (see section 4.2); as monotherapy for the treatment of adult patients with aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated haematological neoplasm (SM AHN), or mast cell leukaemia (MCL).	approved	Sep 18, 2017	ema
Midostaurin	US FDA	—	Efficacy supplement 2020-11-24 (see label)	approved	Nov 24, 2020	openfda
Midostaurin	US FDA	Acute Myeloid Leukemia	Newly diagnosed acute myeloid leukemia (AML) that is FLT3 mutation-positive as detected by an FDA-approved test, in combination with standard cytarabine and daunorubicin induction and cytarabine consolidation.	approved	Apr 28, 2017	openfda
Midostaurin	US FDA	Acute Myeloid Leukemia	Newly diagnosed acute myeloid leukemia (AML) that is FLT3 mutation-positive as detected by an FDA-approved test, in combination with standard cytarabine and daunorubicin induction and cytarabine consolidation.	approved	Apr 28, 2017	openfda
Midostaurin	US FDA	—	Limitations of Use: RYDAPT is not indicated as a single-agent induction therapy for the treatment of patients with AML. Aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated hematological neoplasm (SM-AHN), or mast cell leukemia (MCL).	approved	Apr 28, 2017	openfda
Midostaurin	US FDA	—	Limitations of Use: RYDAPT is not indicated as a single-agent induction therapy for the treatment of patients with AML. Aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated hematological neoplasm (SM-AHN), or mast cell leukemia (MCL).	approved	Apr 28, 2017	openfda
Nilotinib	CA Health Canada	—	Marketed in Canada as REDDY-NILOTINIB (DIN 02556634) under ATC L01EA03 NILOTINIB. Indications are not published in the Drug Product Database — see the Health Canada Product Monograph.	approvedsource: Marketed	Apr 24, 2025	health-canada-dpd
Nilotinib	CA Health Canada	—	Marketed in Canada as REDDY-NILOTINIB (DIN 02556642) under ATC L01EA03 NILOTINIB. Indications are not published in the Drug Product Database — see the Health Canada Product Monograph.	approvedsource: Marketed	Apr 24, 2025	health-canada-dpd
Nilotinib	CA Health Canada	—	Marketed in Canada as APO-NILOTINIB (DIN 02550881) under ATC L01EA03 NILOTINIB. Indications are not published in the Drug Product Database — see the Health Canada Product Monograph.	approvedsource: Marketed	Feb 13, 2025	health-canada-dpd
Nilotinib	CA Health Canada	—	Marketed in Canada as APO-NILOTINIB (DIN 02550903) under ATC L01EA03 NILOTINIB. Indications are not published in the Drug Product Database — see the Health Canada Product Monograph.	approvedsource: Marketed	Feb 13, 2025	health-canada-dpd
Nilotinib	CA Health Canada	—	Marketed in Canada as TASIGNA (DIN 02481715) under ATC L01EA03 NILOTINIB. Indications are not published in the Drug Product Database — see the Health Canada Product Monograph.	withdrawnsource: Cancelled Post Marketsince Oct 4, 2023	May 17, 2019	health-canada-dpd
Nilotinib	CA Health Canada	—	Marketed in Canada as TASIGNA (DIN 02368250) under ATC L01EA03 NILOTINIB. Indications are not published in the Drug Product Database — see the Health Canada Product Monograph.	approvedsource: Marketed	Jul 15, 2011	health-canada-dpd
Nilotinib	CA Health Canada	—	Marketed in Canada as TASIGNA (DIN 02315874) under ATC L01EA03 NILOTINIB. Indications are not published in the Drug Product Database — see the Health Canada Product Monograph.	approvedsource: Marketed	Sep 30, 2008	health-canada-dpd