GIST
MCID: GST019
MIFTS: 73

Gastrointestinal Stromal Tumor (GIST) malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases

Aliases & Classifications for Gastrointestinal Stromal Tumor

Aliases & Descriptions for Gastrointestinal Stromal Tumor:

Name: Gastrointestinal Stromal Tumor 54 12 24 25 56 66 13 52 14
Gist 12 50 24 25 56 66 14
Gastrointestinal Stromal Sarcoma 50 25 56 69
Gastrointestinal Stromal Tumors 50 29 42 69
Paraganglioma and Gastric Stromal Sarcoma 69
Gastrointestinal Stromal Tumor, Familial 54
Gastrointestinal Stromal Tumor, Somatic 54
Stromal Tumor of Gastrointestinal Tract 12
Gastrointestinal Stromal Neoplasm 25
Plexosarcoma 69
Gant 12

Characteristics:

Orphanet epidemiological data:

56
gastrointestinal stromal tumor
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Sweden); Age of onset: Adolescent,Adult,Childhood;

HPO:

32
gastrointestinal stromal tumor:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM 54 606764
Disease Ontology 12 DOID:9253
MeSH 42 D046152
NCIt 47 C3868
SNOMED-CT 64 128755003 420120006
Orphanet 56 ORPHA44890
MESH via Orphanet 43 D046152
UMLS via Orphanet 70 C0238198
ICD10 via Orphanet 34 C26.9
MedGen 40 C0238198
UMLS 69 C0238198

Summaries for Gastrointestinal Stromal Tumor

OMIM : 54 Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the... (606764) more...

MalaCards based summary : Gastrointestinal Stromal Tumor, also known as gist, is related to paraganglioma and gastric stromal sarcoma and desmoid tumor, and has symptoms including constipation, fatigue and nausea and vomiting. An important gene associated with Gastrointestinal Stromal Tumor is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Akt Signaling. The drugs Gleevec and Stivarga have been mentioned in the context of this disorder. Affiliated tissues include small intestine, endothelial and colon, and related phenotypes are Decreased viability and cellular

Genetics Home Reference : 25 A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. The tumors are thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. GISTs are usually found in adults between ages 40 and 70; rarely, children and young adults develop these tumors. The tumors can be cancerous (malignant) or noncancerous (benign).

NIH Rare Diseases : 50 gastrointestinal stromal tumors are a type of soft tissue sarcoma (tumor) that usually begins in cells in the wall of the stomach, intestines, or rectum. these tumors may be noncancerous or cancerous. they can affect adults, adolescents, or children.  it is estimated that around 5,000 new cases of gastrointestinal stromal tumors are diagnosed in the united states each year. last updated: 4/27/2010

UniProtKB/Swiss-Prot : 66 Gastrointestinal stromal tumor: Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery.

Wikipedia : 71 Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the... more...

Related Diseases for Gastrointestinal Stromal Tumor

Diseases related to Gastrointestinal Stromal Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 305)
id Related Disease Score Top Affiliating Genes
1 paraganglioma and gastric stromal sarcoma 33.1 SDHB SDHC SDHD
2 desmoid tumor 30.6 ACTC1 S100B VIM
3 pheochromocytoma 30.2 ENO2 SDHA SDHB SDHC SDHD
4 intestinal obstruction 30.2 ACTC1 DES NTRK3 VIM
5 adenosarcoma 29.7 ACTC1 DES ENO2 KIT PDGFRA PDGFRB
6 plexosarcoma 10.9
7 13q12.3 microdeletion syndrome 10.4 ACTC1 DES VIM
8 neurofibroma of gallbladder 10.4 CD34 KIT
9 gallbladder leiomyosarcoma 10.4 CD34 KIT
10 carbon monoxide-induced parkinsonism 10.4 ACTC1 DES KIT
11 lymphomatoid papulosis 10.4 ACTC1 VIM
12 invasive mole 10.4 KIT PDGFRA S100B
13 marfanoid hypermobility syndrome 10.4 DES KIT VIM
14 liver angiosarcoma 10.4 DES KIT VIM
15 osteomyelitis 10.4 ACTC1 DES VIM
16 congenital myasthenic syndrome 10.4 ACTC1 DES VIM
17 urethral cancer 10.4 ACTC1 DES VIM
18 inflammatory linear verrucous epidermal nevus 10.4 DES VIM
19 biemond syndrome 10.4 ACTC1 DES VIM
20 biliary papillomatosis 10.4 DES S100B VIM
21 oral erosive lichen 10.4 ACTC1 DES
22 male urethral cancer 10.4 ACTC1 DES VIM
23 testis sarcoma 10.4 CD34 DES KIT
24 cavernous sinus meningioma 10.4 DES S100B VIM
25 lupus - neurological sequelae 10.4 S100B VIM
26 coronary stenosis 10.4 ACTC1 DES VIM
27 vulvar squamous papilloma 10.4 DES S100B VIM
28 conjunctival cancer 10.4 ACTC1 S100B VIM
29 chest wall parachordoma 10.4 ACTC1 CD34 VIM
30 stomach diverticulosis 10.4 KIT S100B VIM
31 omodysplasia 2 10.4 ACTC1 DES VIM
32 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 10.4 ACTC1 S100B VIM
33 dfnb1 10.4 KIT PDGFRA PDGFRB
34 kahrizi syndrome 10.4 KIT PDGFRA PDGFRB
35 lung benign neoplasm 10.4 ACTC1 DES VIM
36 speech disorder 10.4 CD34 KIT
37 episodic ataxia 10.4 ACTC1 CD34 DES
38 fibrosarcoma 10.4 CD34 KIT PDGFRA
39 pustulosis palmaris et plantaris 10.4 ACTC1 DES KIT PDGFRA
40 orthostatic proteinuria 10.4 ACTC1 DES VIM
41 gangliosidosis gm1 10.4 ACTC1 DES KIT
42 sebaceous adenoma 10.4 ACTC1 DES KIT VIM
43 pilar sheath acanthoma 10.4 ACTC1 DES KIT VIM
44 fitz-hugh-curtis syndrome 10.4 ACTC1 DES KIT VIM
45 intravenous leiomyomatosis 10.4 SDHB SDHC SDHD
46 adult endodermal sinus tumor 10.4 DES ENO2 VIM
47 scirrhous adenocarcinoma 10.4 ACTC1 DES VIM
48 rectum leiomyoma 10.4 ENO2 KIT PDGFRA
49 endocervical adenocarcinoma 10.4 SDHB SDHC SDHD
50 myoma 10.4 ACTC1 DES S100B VIM

Graphical network of the top 20 diseases related to Gastrointestinal Stromal Tumor:



Diseases related to Gastrointestinal Stromal Tumor

Symptoms & Phenotypes for Gastrointestinal Stromal Tumor

Symptoms by clinical synopsis from OMIM:

606764

Clinical features from OMIM:

606764

Human phenotypes related to Gastrointestinal Stromal Tumor:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Frequent (79-30%) HP:0002019
2 fatigue 56 32 Frequent (79-30%) HP:0012378
3 nausea and vomiting 56 32 Frequent (79-30%) HP:0002017
4 dysphagia 56 32 Frequent (79-30%) HP:0002015
5 anemia 56 32 Occasional (29-5%) HP:0001903
6 intestinal obstruction 56 32 Frequent (79-30%) HP:0005214
7 irregular hyperpigmentation 56 32 Occasional (29-5%) HP:0007400
8 sarcoma 56 32 Very frequent (99-80%) HP:0100242
9 gastrointestinal hemorrhage 56 32 Frequent (79-30%) HP:0002239
10 skin rash 56 32 Occasional (29-5%) HP:0000988
11 neoplasm of the colon 56 32 Occasional (29-5%) HP:0100273
12 neoplasm of the rectum 56 32 Occasional (29-5%) HP:0100743
13 esophageal neoplasm 56 32 Occasional (29-5%) HP:0100751
14 neoplasm of the small intestine 56 32 Occasional (29-5%) HP:0100833
15 abnormality of the liver 56 32 Occasional (29-5%) HP:0001392
16 neoplasm of the stomach 56 32 Very frequent (99-80%) HP:0006753
17 gastrointestinal stroma tumor 56 32 Very frequent (99-80%) HP:0100723
18 urticaria 32 HP:0001025
19 large hands 32 HP:0001176
20 neoplasm of the gastrointestinal tract 56 Occasional (29-5%)
21 hyperpigmentation of the skin 32 HP:0000953
22 neurofibromas 32 HP:0001067

GenomeRNAi Phenotypes related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.48 PRKCQ
2 Decreased viability GR00173-A 10.48 FLT3 PDGFRA PRKCQ
3 Decreased viability GR00221-A-1 10.48 FLT3 HSP90AA1 KIT PDGFRA PDGFRB PRKCQ
4 Decreased viability GR00221-A-2 10.48 SDHD HSP90AA1 NTRK3 PRKCQ
5 Decreased viability GR00221-A-3 10.48 HSP90AA1 PDGFRA PDGFRB PRKCQ
6 Decreased viability GR00221-A-4 10.48 SDHD FLT3 HSP90AA1 NTRK3 PDGFRA PDGFRB
7 Decreased viability GR00301-A 10.48 KIT
8 Decreased viability GR00342-S-1 10.48 PDGFRB
9 Decreased viability GR00381-A-1 10.48 SDHD
10 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 8.8 FLT3 KIT PRKCQ

MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 KITLG PDGFRA PDGFRB PRKCQ SDHD VIM
2 mortality/aging MP:0010768 10.3 ACTC1 DES ETV1 FLT3 HSP90AA1 KIT
3 behavior/neurological MP:0005386 10.25 DES ENO2 ETV1 HSP90AA1 KIT NTRK3
4 homeostasis/metabolism MP:0005376 10.25 ACTC1 CD34 DES FLT3 KIT KITLG
5 cardiovascular system MP:0005385 10.24 DES KIT ACTC1 KITLG NTRK3 PDGFRA
6 growth/size/body region MP:0005378 10.21 ENO2 ETV1 FLT3 KIT KITLG MTHFR
7 endocrine/exocrine gland MP:0005379 10.11 FLT3 HSP90AA1 KIT KITLG PDGFRA PDGFRB
8 muscle MP:0005369 9.92 ACTC1 DES ETV1 KIT PDGFRA PDGFRB
9 nervous system MP:0003631 9.9 PDGFRA PDGFRB ENO2 ETV1 KIT KITLG
10 neoplasm MP:0002006 9.86 CD34 FLT3 KIT KITLG PDGFRA PRKCQ
11 no phenotypic analysis MP:0003012 9.5 FLT3 KIT MTHFR NTRK3 PDGFRA PRKCQ
12 normal MP:0002873 9.28 ACTC1 ETV1 KIT NTRK3 PDGFRA PDGFRB

Drugs & Therapeutics for Gastrointestinal Stromal Tumor

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Gleevec 17 46 IMATINIB MESYLATE Novartis Approved May 2001
2
Stivarga 17 46 REGORAFENIB Bayer/ Bayer HealthCare Pharmaceuticals Approved February 2013/ Approved September 2012
3
Sutent 17 46 SUNITINIB MALATE Pfizer Approved May 2011/ Approved January 2006
4
Votrient 17 46 PAZOPANIB HYDROCHLORIDE GlaxoSmithKline Approved April 2012/ Approved October of 2009

Drugs for Gastrointestinal Stromal Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 204)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational Phase 4,Phase 1 61825-94-3 5310940 9887054 6857599, 9887054 43805
2
Sunitinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
3
Everolimus Approved Phase 4,Phase 1,Phase 2 159351-69-6 6442177
4
Sirolimus Approved, Investigational Phase 4,Phase 1,Phase 2 53123-88-9 5284616 6436030 46835353
5
Midazolam Approved, Illicit Phase 4,Phase 1 59467-70-8 4192
6
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
7
Caffeine Approved, Nutraceutical Phase 4 58-08-2 2519
8 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
9 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1
11 Imatinib Mesylate Phase 4,Phase 3,Phase 2,Phase 1 123596
12 Protein Kinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
13 Anesthetics Phase 4,Phase 3,Phase 1,Phase 2
14 Immunosuppressive Agents Phase 4,Phase 1,Phase 2
15 Adjuvants, Anesthesia Phase 4,Phase 3,Phase 1
16 Anesthetics, General Phase 4,Phase 3,Phase 1
17 Anesthetics, Intravenous Phase 4,Phase 3,Phase 1
18 Anti-Anxiety Agents Phase 4,Phase 1
19 Central Nervous System Depressants Phase 4,Phase 3,Phase 1
20 Central Nervous System Stimulants Phase 4
21
Erlotinib Hydrochloride Phase 4,Phase 1 183319-69-9 176871
22 GABA Agents Phase 4,Phase 1
23 GABA Modulators Phase 4,Phase 1
24 Hypnotics and Sedatives Phase 4,Phase 1
25 Neurotransmitter Agents Phase 4,Phase 3,Phase 1
26 Pharmaceutical Solutions Phase 4,Phase 3
27 Phosphodiesterase Inhibitors Phase 4
28 Psychotropic Drugs Phase 4,Phase 1
29 Purinergic P1 Receptor Antagonists Phase 4
30 Tranquilizing Agents Phase 4,Phase 1
31 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
32 Antacids Phase 4
33 Anti-Ulcer Agents Phase 4
34
Proton pump inhibitors Phase 4,Phase 1
35 Cola Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
36
Bevacizumab Approved, Investigational Phase 3,Phase 2,Phase 1 216974-75-3
37
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
38
Dasatinib Approved, Investigational Phase 3,Phase 2,Phase 1 302962-49-8 3062316
39
Formaldehyde Approved, Vet_approved Phase 3 50-00-0 712
40
Menthol Approved Phase 3 2216-51-5 16666
41
Cyproheptadine Approved Phase 3 129-03-3 2913
42
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
43 Antibodies Phase 3,Phase 2,Phase 1
44 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1
45 Endothelial Growth Factors Phase 3,Phase 2
46 Immunoglobulin G Phase 3
47 Immunoglobulins Phase 3,Phase 2,Phase 1
48 Mitogens Phase 3,Phase 2
49
Lactitol Phase 2, Phase 3 585-86-4 3871
50 Analgesics Phase 3

Interventional clinical trials:

(show top 50) (show all 283)
id Name Status NCT ID Phase
1 Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors Unknown status NCT00777504 Phase 4
2 Relationship Between Platinum Levels in the Blood and Neurotoxicity in Patients Who Are Receiving Oxaliplatin for Gastrointestinal Cancer Unknown status NCT00274885 Phase 4
3 Safety And Efficacy Study Of Sunitinib Malate In Chinese Patients With Imatinib Resistant Or Intolerant Malignant Gastrointestinal Stromal Tumor Completed NCT00793871 Phase 4
4 Post-Marketing Clinical Study of Postoperative Adjuvant Therapy With Imatinib Mesylate in Patients With Gastrointestinal Stromal Tumors (GIST) Completed NCT00171977 Phase 4
5 Treatment of Patients With Everolimus and Imatinib Mesylate Who Have Progressive Gastro Intestinal Stromal Tumors (GIST) and Are Resistant to Imatinib Mesylate Completed NCT00510354 Phase 4
6 Cytochrom p450 3A4 and 1A2 Phenotyping for the Individualization of Treatment With Sunitinib or Erlotinib in Cancer Patients Completed NCT01402089 Phase 4
7 The Effects of the Proton Pump Inhibitor Esomeprazole on the Bioavailability of Regorafenib Recruiting NCT02800330 Phase 4
8 Treatment of Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumors in First Line With Nilotinib Active, not recruiting NCT00756509 Phase 4
9 Feasibility and Yield of a New 20 G ProCore Needle With Coiled Sheath in the Gastrointestinal Subepithelial Tumors Enrolling by invitation NCT02884154 Phase 4
10 Continuation of Drug Supply in Chinese Patients After CAMN107DBR01study Termination No longer available NCT01613053 Phase 4
11 Post Marketing Surveillance On The Safety And Tolerability Of Sunitinib Malate (Sutent) For Filipino Patients Terminated NCT01073644 Phase 4
12 Chromosome Abnormalities in Chronic Myeloid Leukemia (CML) on Imatinib. GIST Patients on Imatinib Terminated NCT00461929 Phase 4
13 Imatinib Mesylate in Treating Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumor Unknown status NCT00685828 Phase 3
14 Imatinib Mesylate or Observation Only in Treating Patients Who Have Undergone Surgery for Localized Gastrointestinal Stromal Tumor Unknown status NCT00103168 Phase 3
15 A Phase 3 Study to Evaluate Efficacy and Safety of Masitinib in Comparison to Imatinib in Patients With Gastro-Intestinal Stromal Tumour in First Line Medical Treatment Unknown status NCT00812240 Phase 3
16 A Phase 3 Study to Evaluate Efficacy and Safety of Masitinib in Comparison to Sunitinib in Patients With Gastrointestinal Stromal Tumour After Progression With Imatinib Unknown status NCT01694277 Phase 3
17 Masitinib vs Placebo - Phase III Study to Compare the Efficacy and Safety of Masitinib to Placebo in Patients With Localized, Primary GIST After Complete Surgery and With High Risk of Recurrence Unknown status NCT02009423 Phase 3
18 Imatinib Mesylate in Treating Patients With Primary Gastrointestinal Stromal Tumor That Has Been Completely Removed By Surgery Completed NCT00041197 Phase 3
19 Imatinib Mesylate With or Without Bevacizumab in Treating Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumor Completed NCT00324987 Phase 3
20 Open-label Trial of GlivecWith Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumors Completed NCT00293124 Phase 3
21 A Study To Assess The Safety And Efficacy Of SU11248 In Patients With Gastrointestinal Stromal Tumor(GIST) Completed NCT00075218 Phase 3
22 Efficacy of Nilotinib in Adult Patients With Gastrointestinal Stromal Tumors Resistant to Imatinib and Sunitinib. Completed NCT01289028 Phase 3
23 Comparative Bioequivalence Study in Adult Patients Suffering From Chronic Myeloid Leukemia & Gastrointestinal Stromal Tumor Under Fed Conditions Completed NCT02103322 Phase 2, Phase 3
24 Detection of CF-DNA in Patients With Gastrointestinal Stromal Tumors (GIST) Completed NCT01462994 Phase 3
25 Efficacy and Safety of Nilotinib (AMN107) Compared With Current Treatment Options in Patients With GIST Who Have Failed Both Imatinib and Sunitinib Completed NCT00471328 Phase 3
26 Rechallenge of Imatinib in GIST Having no Effective Treatment Completed NCT01151852 Phase 3
27 A Study of Nilotinib Versus Imatinib in GIST Patients Completed NCT00785785 Phase 3
28 Prospective Multicentric Randomized Study of Glivec® in Advanced GIST Expressing C-kit: Interruption After 5 Years vs Maintenance Completed NCT00367861 Phase 3
29 Study Comparing 12 Months Versus 36 Months of Imatinib in the Treatment of Gastrointestinal Stromal Tumor (GIST) Completed NCT00116935 Phase 3
30 Caphosol in Oral Mucositis Due to Targeted Therapy Completed NCT01265810 Phase 3
31 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
32 Safety and Efficacy of OP2000 (Deligoparin) in the Treatment of Active Ulcerative Colitis Completed NCT00033943 Phase 2, Phase 3
33 Efficiency of Imatinib Treatment Maintenance or Interruption After 3 Years of Adjuvant Treatment in Patients With Gastrointestinal Stromal Tumours (GIST) Recruiting NCT02260505 Phase 3
34 EUS-FNB vs. Single-incision Needle-knife (SINK) Biopsy for Gastrointestinal SELs Recruiting NCT02866045 Phase 3
35 Randomized Trial of Crenolanib in Subjects With D842V Mutated GIST Recruiting NCT02847429 Phase 3
36 Three Versus Five Years of Adjuvant Imatinib as Treatment of Patients With Operable GIST Recruiting NCT02413736 Phase 3
37 A Prospective Study of Remestemcel-L, Ex-vivo Cultured Adult Human Mesenchymal Stromal Cells, for the Treatment of Pediatric Patients Who Have Failed to Respond to Steroid Treatment for Acute GVHD Recruiting NCT02336230 Phase 3
38 Study of Regorafenib as a 3rd-line or Beyond Treatment for Gastrointestinal Stromal Tumors (GIST) Active, not recruiting NCT01271712 Phase 3
39 Efficacy of Imatinib in Patients With Intermediate-risk Gastrointestinal Stromal Tumor With a High-risk Genomic Grade Index Not yet recruiting NCT02576080 Phase 3
40 A Study of Regorafenib in Refractory Advanced Gastro-Oesophageal Cancer Not yet recruiting NCT02773524 Phase 3
41 Regorafenib in Subjects With Gastrointestinal Stromal Tumors (GIST) Who Have Progressed After Standard Therapy No longer available NCT01646593 Phase 3
42 Imatinib Mesylate With or Without Surgery in Treating Patients With Metastatic Gastrointestinal Stromal Tumor That is Responding to Imatinib Mesylate Terminated NCT00956072 Phase 3
43 Comparison of Two Different Doses of STI571 in Treating Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumor Terminated NCT00009906 Phase 3
44 Safety And Effectiveness Of Daily Dosing With Sunitinib Or Imatinib In Patients With Gastrointestinal Stromal Tumors Terminated NCT00372567 Phase 3
45 Nilotinib 800 Mg And Imatinib 800 Mg For The Treatment Of Patients With Gastrointestinal Stromal Tumors (Gist) Refractory To Imatinib 400 Mg Terminated NCT00751036 Phase 3
46 Study of Dose Escalation Versus no Dose Escalation of Imatinib in Metastatic Gastrointestinal Stromal Tumors (GIST) Patients Terminated NCT01031628 Phase 3
47 Study Evaluating IPI-504 in Patients With Gastrointestinal Stromal Tumors (GIST) Following Failure of at Least Imatinib and Sunitinib Terminated NCT00688766 Phase 3
48 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3
49 A Phase 2 Study to Evaluate Efficacy and Safety of Masitinib in Comparison to Sunitinib in Patients With Gastro-Intestinal Stromal Tumour Resistant to Imatinib Unknown status NCT01506336 Phase 2
50 Gleevec Administered Preoperatively to Reduce Gastrointestinal Stromal Tumor (GIST) Unknown status NCT00290485 Phase 2

Search NIH Clinical Center for Gastrointestinal Stromal Tumor

Cochrane evidence based reviews: gastrointestinal stromal tumors

Genetic Tests for Gastrointestinal Stromal Tumor

Genetic tests related to Gastrointestinal Stromal Tumor:

id Genetic test Affiliating Genes
1 Gastrointestinal Stromal Tumor 29 24 PDGFRA KIT SDHB

Anatomical Context for Gastrointestinal Stromal Tumor

MalaCards organs/tissues related to Gastrointestinal Stromal Tumor:

39
Small Intestine, Endothelial, Colon, Smooth Muscle, Liver, Myeloid, Bone

Publications for Gastrointestinal Stromal Tumor

Articles related to Gastrointestinal Stromal Tumor:

(show top 50) (show all 1346)
id Title Authors Year
1
A Novel Curative Treatment Strategy for Patients with Lower Grade Rectal Gastrointestinal Stromal Tumor: Chemoreduction Combined with Transanal Endoscopic Microsurgery. ( 28358587 )
2017
2
Skull Metastasis of Gastric Gastrointestinal Stromal Tumor Successfully Managed by Surgery. ( 28061498 )
2017
3
Duodenal gastrointestinal stromal tumor presenting as pancreatic head mass - a case report. ( 28523328 )
2017
4
Gastrointestinal stromal tumor with a PDGFRA mutation masquerading as gastric plexiform fibromyxoma: A comparative clinicopathological study of two cases. ( 28356974 )
2017
5
Extra-Gastrointestinal Stromal Tumor of Prostate. ( 28418346 )
2017
6
Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene. ( 27981619 )
2017
7
Severe bleeding caused by giant gastrointestinal stromal tumor of the jejunum. ( 28457469 )
2017
8
Gastrointestinal stromal tumor presenting as a right adnexal mass with histopathologic correlation. ( 28494279 )
2017
9
Removal of an extraluminal gastric gastrointestinal stromal tumor: the role of submucosal tunneling endoscopic resection. ( 28068687 )
2017
10
Influence of CYP2C8 polymorphisms on imatinib steady-state trough level in chronic myeloid leukemia and gastrointestinal stromal tumor patients. ( 28383355 )
2017
11
Clinicopathological and molecular features of a large cohort of gastrointestinal stromal tumors (GISTs) and review of the literature: BRAF mutations in KIT/PDGFRA wild-type GISTs are rare events. ( 28159677 )
2017
12
Glomus tumor of the stomach-a tumor that needs to be differentiated from gastrointestinal stromal tumor. ( 28501534 )
2017
13
The Diagnostic and Prognostic Utility of DOG1 Expression on Gastrointestinal Stromal Tumors. ( 28044310 )
2017
14
A Congenital Gastric Anomaly, Masquerading as Gastrointestinal Stromal Tumor. ( 28056350 )
2017
15
An Epithelioid Gastrointestinal Stromal Tumor of the Stomach With Strong Expression of Keratin: Clinicopathologic Correlation and Follow-up Post-Imatinib Therapy. ( 28362703 )
2017
16
Gastrointestinal Stromal Tumor Induced Hypercalcemia. ( 28484656 )
2017
17
Is 3-years duration of adjuvant imatinib mesylate treatment sufficient for patients with high-risk gastrointestinal stromal tumor? A study based on long-term follow-up. ( 28083710 )
2017
18
Unusual presentation of gastrointestinal stromal tumor. ( 28377288 )
2017
19
A phase II trial of regorafenib in patients with metastatic and/or a unresectable gastrointestinal stromal tumor harboring secondary mutations of exon 17. ( 28487491 )
2017
20
Primary Extra-Gastrointestinal Stromal Tumor of Mesenteric Root: a Rare Version of a Soft Tissue Tumor Located on a Critical Region. ( 28367608 )
2017
21
BRUNNER GLAND ADENOMA MASQUERADING AS DUODENAL GASTROINTESTINAL STROMAL TUMOR WITH INTUSSUSCEPTION: CASE REPORT. ( 28489176 )
2017
22
Orai1 mediates tumor-promoting store-operated Ca(2+) entry in human gastrointestinal stromal tumors via c-KIT and the extracellular signal-regulated kinase pathway. ( 28231736 )
2017
23
Clinical and pathological characteristics of gastrointestinal stromal tumor (GIST) metastatic to bone. ( 28488171 )
2017
24
How best to manage gastrointestinal stromal tumor. ( 28439494 )
2017
25
Uptake of (123)I-metaiodobenzylguanidine by gastrointestinal stromal tumor. ( 28447327 )
2017
26
Sphincter-saving resection by cluneal arched skin incision for a gastrointestinal stromal tumor (GIST) of the lower rectum: a case report. ( 28058590 )
2017
27
miRNA-218-loaded carboxymethyl chitosan - Tocopherol nanoparticle to suppress the proliferation of gastrointestinal stromal tumor growth. ( 28024574 )
2017
28
Detection of mutations in the BRAF gene in patients with KIT and PDGFRA wild-type gastrointestinal stromal tumors. ( 27864688 )
2017
29
Gastrointestinal Stromal Tumor Showing Intense Tracer Uptake on PSMA PET/CT. ( 28072616 )
2017
30
An Intra-Abdominal Desmoid Tumor, Embedded in the Pancreas, Preoperatively Diagnosed as an Extragastric Growing Gastrointestinal Stromal Tumor. ( 28512414 )
2017
31
Concomitant Lung Cancer and Gastrointestinal Stromal Tumor: First Report of Hypoxia Imaging With 18F-FAZA PET/CT. ( 28525452 )
2017
32
Laparoscopy-assisted full-thickness resection of the duodenum for patients with gastrointestinal stromal tumor with ulceration. ( 28386914 )
2017
33
KIT over-expression by p55PIK-PI3K leads to Imatinib-resistance in patients with gastrointestinal stromal tumors. ( 26587973 )
2016
34
Gain of TP53 Mutation in Imatinib-treated SDH-Deficient Gastrointestinal Stromal Tumor and Clinical Utilization of Targeted Next-generation Sequencing Panel for Therapeutic Decision Support. ( 28027118 )
2016
35
Molecular subtypes of gastrointestinal stromal tumor requiring specific treatments. ( 27163723 )
2016
36
Our experience with laparoscopic partial gastrectomy by the 'lift-and-cut method' for gastric gastrointestinal stromal tumor with maximal preservation of the remnant stomach. ( 27924391 )
2016
37
Gastrointestinal stromal tumor as cause of hepatic mass. ( 27500151 )
2016
38
Targeted treatments of sarcomas and connective tumors beside gastrointestinal stromal tumor. ( 27166665 )
2016
39
Perforated Gastrointestinal Stromal Tumor of the Meckel's Diverticulum: a Case Report and Review of Literature. ( 27994335 )
2016
40
Gastrointestinal Stromal Tumor Arising From a Gastric Duplication Cyst. ( 27144196 )
2016
41
Knowns and Known Unknowns of Gastrointestinal Stromal Tumor Adjuvant Therapy. ( 27546844 )
2016
42
PDCD2 and NCoR1 as putative tumor suppressors in gastric gastrointestinal stromal tumors. ( 26589942 )
2016
43
Acute Pancreatitis and Gastroduodenal Intussusception Induced by an Underlying Gastric Gastrointestinal Stromal Tumor: A Case Report. ( 27104028 )
2016
44
Pharmacogenetics of tyrosine kinase inhibitors in gastrointestinal stromal tumor and chronic myeloid leukemia. ( 27149004 )
2016
45
Interstitial Cells of Cajal in Deep Esophageal Leiomyoma: Immunohistochemical Mimics of Gastrointestinal Stromal Tumor. ( 27422468 )
2016
46
A Case of a Gastrointestinal Stromal Tumor Diagnosed at the Postpartum Period. ( 27957364 )
2016
47
Long-Term Outcomes after Endoscopic Treatment of Gastric Gastrointestinal Stromal Tumor. ( 27196737 )
2016
48
An inhibitor of the acetyltransferases CBP/p300 exerts antineoplastic effects on gastrointestinal stromal tumor cells. ( 27633918 )
2016
49
Adjuvant imatinib treatment in gastrointestinal stromal tumor: which risk stratification criteria and for how long? A case report. ( 26457546 )
2016
50
Efficacy and Safety of Regorafenib in Korean Patients with Advanced Gastrointestinal Stromal Tumor After Failure of Imatinib and Sunitinib: A Multicenter Study Based on the Management Access Program. ( 27456941 )
2016

Variations for Gastrointestinal Stromal Tumor

UniProtKB/Swiss-Prot genetic disease variations for Gastrointestinal Stromal Tumor:

66
id Symbol AA change Variation ID SNP ID
1 KIT p.Lys550Ile VAR_033123 rs28933968
2 KIT p.Val559Ala VAR_033126 rs121913517
3 KIT p.Val559Asp VAR_033127 rs121913517
4 PDGFRA p.Tyr849Cys VAR_066474

ClinVar genetic disease variations for Gastrointestinal Stromal Tumor:

6 (show top 50) (show all 97)
id Gene Variation Type Significance SNP ID Assembly Location
1 MTHFR NM_005957.4(MTHFR): c.665C> T (p.Ala222Val) single nucleotide variant drug response rs1801133 GRCh37 Chromosome 1, 11856378: 11856378
2 MTHFR NM_005957.4(MTHFR): c.1286A> C (p.Glu429Ala) single nucleotide variant drug response rs1801131 GRCh37 Chromosome 1, 11854476: 11854476
3 FASTKD3; MTRR NM_002454.2(MTRR): c.66A> G (p.Ile22Met) single nucleotide variant drug response rs1801394 GRCh37 Chromosome 5, 7870973: 7870973
4 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
5 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh37 Chromosome 1, 17359573: 17359573
6 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Pathogenic/Likely pathogenic rs74315367 GRCh37 Chromosome 1, 17350520: 17350520
7 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh37 Chromosome 1, 17349143: 17349143
8 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
9 PDGFRA NM_006206.5(PDGFRA): c.2525A> T (p.Asp842Val) single nucleotide variant Pathogenic rs121908585 GRCh37 Chromosome 4, 55152093: 55152093
10 PDGFRA NM_006206.5(PDGFRA): c.2526_2537delCATCATGCATGA (p.Ile843_Asp846del) deletion Pathogenic/Likely pathogenic rs587776792 GRCh38 Chromosome 4, 54285927: 54285938
11 PDGFRA NM_006206.5(PDGFRA): c.2533_2544delCATGATTCGAAC (p.His845_Asn848del) deletion Pathogenic rs587776793 GRCh37 Chromosome 4, 55152101: 55152112
12 PDGFRA NM_006206.5(PDGFRA): c.1682T> A (p.Val561Asp) single nucleotide variant Pathogenic rs121908586 GRCh37 Chromosome 4, 55141036: 55141036
13 PDGFRA NM_006206.5(PDGFRA): c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg) insertion Pathogenic rs587776794 GRCh38 Chromosome 4, 54274868: 54274869
14 PDGFRA NM_006206.5(PDGFRA): c.1679_1693delGGGTCATTGAATCAA (p.Arg560_Ser564del) deletion Pathogenic rs587776795 GRCh38 Chromosome 4, 54274866: 54274880
15 PDGFRA NM_006206.5(PDGFRA): c.1696_1713del18 (p.Ser566_Glu571del) deletion Pathogenic rs121913271 GRCh38 Chromosome 4, 54274883: 54274900
16 PDGFRA NM_006206.5(PDGFRA): c.2536G> T (p.Asp846Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121908588 GRCh37 Chromosome 4, 55152104: 55152104
17 PDGFRA NM_006206.5(PDGFRA): c.1664A> G (p.Tyr555Cys) single nucleotide variant Pathogenic rs121908589 GRCh37 Chromosome 4, 55141018: 55141018
18 KIT NM_000222.2(KIT): c.1676_1681delTTGTTG (p.Val559_Val560del) deletion Pathogenic rs587776803 GRCh38 Chromosome 4, 54727444: 54727449
19 KIT NM_000222.2(KIT): c.2447A> T (p.Asp816Val) single nucleotide variant Pathogenic/Likely pathogenic rs121913507 GRCh37 Chromosome 4, 55599321: 55599321
20 KIT NM_000222.2(KIT): c.1652_1666delCCATGTATGAAGTAC (p.Pro551_Val555del) deletion Pathogenic rs587776804 GRCh37 Chromosome 4, 55593586: 55593600
21 KIT KIT, 15-BP DEL/LYS550ILE deletion Pathogenic
22 KIT NM_000222.2(KIT): c.1676T> A (p.Val559Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh37 Chromosome 4, 55593610: 55593610
23 KIT NM_000222.2(KIT): c.1648_1674del27 (p.Lys550_Lys558del) deletion Pathogenic rs121913234 GRCh38 Chromosome 4, 54727416: 54727442
24 KIT NM_000222.2(KIT): c.1675_1677delGTT (p.Val560del) deletion Pathogenic/Likely pathogenic rs121913685 GRCh37 Chromosome 4, 55593609: 55593611
25 KIT NM_000222.2(KIT): c.2446G> T (p.Asp816Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913506 GRCh37 Chromosome 4, 55599320: 55599320
26 KIT NM_000222.2(KIT): c.2515G> A (p.Glu839Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913509 GRCh37 Chromosome 4, 55602694: 55602694
27 KIT NM_000222.2(KIT): c.2446G> C (p.Asp816His) single nucleotide variant Pathogenic/Likely pathogenic rs121913506 GRCh37 Chromosome 4, 55599320: 55599320
28 KIT NM_000222.2(KIT): c.1676T> C (p.Val559Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh37 Chromosome 4, 55593610: 55593610
29 KIT NM_000222.2(KIT): c.1924A> G (p.Lys642Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913512 GRCh37 Chromosome 4, 55594221: 55594221
30 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic/Likely pathogenic rs113488022 GRCh37 Chromosome 7, 140453136: 140453136
31 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh37 Chromosome 1, 17355100: 17355100
32 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094
33 SDHB NM_003000.2(SDHB): c.575G> C (p.Cys192Ser) single nucleotide variant Likely pathogenic rs397516835 GRCh37 Chromosome 1, 17350535: 17350535
34 KRAS NM_033360.3(KRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
35 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh37 Chromosome 1, 17359553: 17359553
36 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic/Likely pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
37 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh37 Chromosome 1, 17371320: 17371320
38 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh37 Chromosome 1, 17380442: 17380442
39 SDHB NM_003000.2(SDHB): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs786203251 GRCh37 Chromosome 1, 17349144: 17349144
40 SDHB NM_003000.2(SDHB): c.689G> T (p.Arg230Leu) single nucleotide variant Likely pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
41 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
42 SDHB NM_003000.2(SDHB): c.380T> G (p.Ile127Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786201095 GRCh37 Chromosome 1, 17355138: 17355138
43 SDHB NM_003000.2(SDHB): c.166_170delCCTCA (p.Pro56Tyrfs) deletion Pathogenic rs786202100 GRCh37 Chromosome 1, 17371286: 17371290
44 SDHB NM_003000.2(SDHB): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs772551056 GRCh37 Chromosome 1, 17371319: 17371319
45 KIT NM_000222.2(KIT): c.1669_1674delTGGAAG (p.Trp557_Lys558del) deletion Likely pathogenic rs869025568 GRCh38 Chromosome 4, 54727437: 54727442
46 SDHB NM_003000.2(SDHB): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs876658461 GRCh37 Chromosome 1, 17350470: 17350470
47 SDHB NM_003000.2(SDHB): c.587G> A (p.Cys196Tyr) single nucleotide variant Pathogenic rs876658367 GRCh37 Chromosome 1, 17350523: 17350523
48 SDHC NM_003001.3(SDHC): c.406-?_*2318+?del deletion Pathogenic
49 SDHB NM_003000.2(SDHB): c.-151_*159del deletion Pathogenic GRCh38 Chromosome 1, 17018722: 17054170
50 SDHB NM_003000.2(SDHB): c.296G> A (p.Gly99Asp) single nucleotide variant Likely pathogenic rs878854576 GRCh37 Chromosome 1, 17355222: 17355222

Cosmic variations for Gastrointestinal Stromal Tumor:

9 (show top 50) (show all 125)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM6146 PIK3CA soft tissue,stomach,gastrointestinal stromal tumour,spindle c.3137C>T p.A1046V 21
2 COSM776 PIK3CA soft tissue,stomach,gastrointestinal stromal tumour,spindle c.3140A>T p.H1047L 21
3 COSM22414 PDGFRA soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1977C>G p.N659K 21
4 COSM739 PDGFRA soft tissue,stomach,gastrointestinal stromal tumour,epithelioid c.1682T>A p.V561D 21
5 COSM96893 PDGFRA soft tissue,stomach,gastrointestinal stromal tumour,spindle c.2533C>T p.H845Y 21
6 COSM22416 PDGFRA soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1975A>T p.N659Y 21
7 COSM22415 PDGFRA soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1977C>A p.N659K 21
8 COSM1260 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1679T>G p.V560G 21
9 COSM1252 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1676T>A p.V559D 21
10 COSM1183 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1654A>C p.M552L 21
11 COSM1257 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1679T>A p.V560D 21
12 COSM1216 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1669T>A p.W557R 21
13 COSM1255 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1676T>C p.V559A 21
14 COSM1154 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1491G>A p.V497V 21
15 COSM12708 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.2009C>T p.T670I 21
16 COSM18681 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.2467T>G p.Y823D 21
17 COSM1221 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1669T>G p.W557G 21
18 COSM1167 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1650A>C p.K550N 21
19 COSM1290 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1727T>C p.L576P 21
20 COSM1302 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1769G>A p.S590N 21
21 COSM1227 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1670G>C p.W557S 21
22 COSM96885 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1526A>T p.K509I 21
23 COSM33903 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1730C>T p.P577L 21
24 COSM17944 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1660G>A p.E554K 21
25 COSM96889 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1513A>C p.N505H 21
26 COSM96888 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1714G>A p.D572N 21
27 COSM22379 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.2458G>C p.D820H 21
28 COSM1278 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1703A>G p.Y568C 21
29 COSM19216 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1674G>C p.K558N 21
30 COSM1253 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1676T>G p.V559G 21
31 COSM24749 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1690A>C p.N564H 21
32 COSM1297 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1751T>C p.F584S 21
33 COSM25065 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1940T>C p.L647P 21
34 COSM1166 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1649A>G p.K550R 21
35 COSM24750 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1699A>C p.N567H 21
36 COSM1184 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1655T>A p.M552K 21
37 COSM308543 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle and epithelioid c.1711A>C p.I571L 21
38 COSM12591 PIK3CA soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.3127A>G p.M1043V 18
39 COSM774 PIK3CA soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.3139C>T p.H1047Y 18
40 COSM19325 PDGFRA soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.1765C>T p.P589S 18
41 COSM19324 PDGFRA soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.2464C>A p.R822S 18
42 COSM736 PDGFRA soft tissue,small intestine,gastrointestinal stromal tumour,spindle and epithelioid c.2525A>T p.D842V 18
43 COSM22413 PDGFRA soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.2472C>T p.V824V 18
44 COSM133700 KIT soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.1671G>C p.W557C 18
45 COSM1219 KIT soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.1669T>C p.W557R 18
46 COSM12710 KIT soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.2458G>T p.D820Y 18
47 COSM12706 KIT soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.1961T>C p.V654A 18
48 COSM12709 KIT soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.2460T>A p.D820E 18
49 COSM19109 KIT soft tissue,small intestine,gastrointestinal stromal tumour,spindle and epithelioid c.2464A>T p.N822Y 18
50 COSM1307 KIT soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.2394C>T p.I798I 18

Copy number variations for Gastrointestinal Stromal Tumor from CNVD:

7 (show top 50) (show all 117)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13352 1 1 125000000 Loss Gastrointestinal stromal cancer
2 13353 1 1 125000000 Loss Gastrointestinal stromal cancer
3 13354 1 1 125000000 Loss Gastrointestinal stromal cancer
4 13766 1 1 28000000 Loss Gastrointestinal stromal cancer
5 14271 1 106334457 114964386 Loss AMPD1 Gastrointestinal stromal cancer
6 14272 1 106334457 114964386 Loss AP4B1 Gastrointestinal stromal cancer
7 14273 1 106334457 114964386 Loss BCAS2 Gastrointestinal stromal cancer
8 16434 1 124300000 247249719 Gain Gastrointestinal stromal cancer
9 17388 1 142600000 147000000 Gain PEX11B Gastrointestinal stromal cancer
10 29288 1 2300000 117600000 Loss Gastrointestinal stromal cancer
11 36966 1 84129665 95422234 Loss RWDD3 Gastrointestinal stromal cancer
12 38126 1 99947682 100601821 Loss AGL Gastrointestinal stromal cancer
13 38127 1 99947682 100601821 Loss HIAT1 Gastrointestinal stromal cancer
14 44527 10 5878820 6526558 Loss FBXO18 Gastrointestinal stromal cancer
15 44528 10 5878820 6526558 Loss PFKFB3 Gastrointestinal stromal cancer
16 44529 10 5878820 6526558 Loss RBM17 Gastrointestinal stromal cancer
17 45852 10 74900000 135534747 Loss Gastrointestinal stromal cancer
18 48507 11 1 53700000 Copy number Gastrointestinal stromal cancer
19 66050 12 24991089 25698435 Deletion KRAS Gastrointestinal stromal cancer
20 67067 12 35800000 133851895 Gain Gastrointestinal stromal cancer
21 70005 12 57021816 85836547 Deletion RAP1B Gastrointestinal stromal cancer
22 73900 12 98322858 130692602 Deletion RAN Gastrointestinal stromal cancer
23 74692 13 110300000 115169878 Loss Gastrointestinal stromal cancer
24 75247 13 18400000 105800000 Loss Gastrointestinal stromal cancer
25 75347 13 19198237 22523922 Deletion LATS2 Gastrointestinal stromal cancer
26 75669 13 22536202 31430096 Deletion RNF6 Gastrointestinal stromal cancer
27 77894 13 48011276 54590729 Deletion TRIM13 Gastrointestinal stromal cancer
28 77895 13 48011276 54590729 Deletion INTS6 Gastrointestinal stromal cancer
29 78534 13 52523853 72250500 Gain TDRD3 Gastrointestinal stromal cancer
30 79527 13 73160881 93888882 Gain C13orf7 Gastrointestinal stromal cancer
31 80767 13 97404021 99434703 Loss CLYBL Gastrointestinal stromal cancer
32 80768 13 97404021 99434703 Loss STK24 Gastrointestinal stromal cancer
33 80769 13 97404021 99434703 Loss TM9SF2 Gastrointestinal stromal cancer
34 82833 14 17600000 107349540 Loss Gastrointestinal stromal cancer
35 82834 14 17600000 107349540 Loss Gastrointestinal stromal cancer
36 83013 14 19100000 106368585 Loss Gastrointestinal stromal cancer
37 83178 14 19365081 106329840 Loss OXA1L Gastrointestinal stromal cancer
38 83179 14 19365081 106329840 Loss PPP2R5E Gastrointestinal stromal cancer
39 84716 14 33942779 34940779 Loss C14orf10 Gastrointestinal stromal cancer
40 84717 14 33942779 34940779 Loss C14orf24 Gastrointestinal stromal cancer
41 85081 14 38585823 38760942 Deletion PNN Gastrointestinal stromal cancer
42 86405 14 59284472 61286479 Deletion PPM1A Gastrointestinal stromal cancer
43 87231 14 72470216 73993089 Loss C14orf168 Gastrointestinal stromal cancer
44 87232 14 72470216 73993089 Loss PSEN1 Gastrointestinal stromal cancer
45 87233 14 72470216 73993089 Loss ZADH1 Gastrointestinal stromal cancer
46 87234 14 72470216 73993089 Loss ZFYVE1 Gastrointestinal stromal cancer
47 87235 14 72470216 73993089 Loss ZNF410 Gastrointestinal stromal cancer
48 87381 14 73126255 89981048 Deletion SEL1L Gastrointestinal stromal cancer
49 87752 14 76889274 77394297 Loss C14orf133 Gastrointestinal stromal cancer
50 87753 14 76889274 77394297 Loss C14orf156 Gastrointestinal stromal cancer

Expression for Gastrointestinal Stromal Tumor

Search GEO for disease gene expression data for Gastrointestinal Stromal Tumor.

Pathways for Gastrointestinal Stromal Tumor

Pathways related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

(show all 28)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 FLT3 HSP90AA1 KIT KITLG PDGFRA PDGFRB
2
Show member pathways
13.26 ETV1 FLT3 HSP90AA1 KIT KITLG NTRK3
3
Show member pathways
13.24 FLT3 KIT KITLG NTRK3 PDGFRA PDGFRB
4
Show member pathways
13.07 FLT3 HSP90AA1 KIT KITLG NTRK3 PDGFRA
5
Show member pathways
12.96 KIT KITLG NTRK3 PDGFRA PDGFRB PRKCQ
6
Show member pathways
12.93 KIT KITLG NTRK3 PDGFRA PDGFRB PRKCQ
7
Show member pathways
12.87 ACTC1 FLT3 KIT NTRK3 PDGFRA PDGFRB
8 12.51 FLT3 HSP90AA1 KIT KITLG PDGFRA PDGFRB
9 12.46 HSP90AA1 KIT KITLG PDGFRA PDGFRB
10
Show member pathways
12.36 NTRK3 PDGFRA PDGFRB PRKCQ
11
Show member pathways
12.31 KIT KITLG PDGFRA PDGFRB
12
Show member pathways
11.93 SDHA SDHB SDHC SDHD
13 11.87 FLT3 KIT KITLG PDGFRA PDGFRB
14 11.86 CD34 FLT3 KIT KITLG
15 11.76 CD34 FLT3 KIT KITLG
16
Show member pathways
11.75 ENO2 MTHFR SDHA SDHB SDHC SDHD
17 11.7 PDGFRA S100B VIM
18 11.67 CD34 KIT KITLG
19 11.66 CD34 FLT3 KIT
20 11.62 ACTC1 DES VIM
21
Show member pathways
11.62 FLT3 KIT PDGFRB PRKCQ
22
Show member pathways
11.59 KIT PDGFRA PDGFRB
23
Show member pathways
11.57 ENO2 SDHA SDHB SDHC SDHD
24 11.45 CD34 FLT3 KIT
25 11.44 ACTC1 KIT PDGFRA
26 11.21 NTRK3 PDGFRA PDGFRB PRKCQ
27 10.83 FLT3 KIT NTRK3 PDGFRA PDGFRB
28 10.78 PDGFRA PDGFRB

GO Terms for Gastrointestinal Stromal Tumor

Cellular components related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.97 CD34 DES ENO2 FLT3 HSP90AA1 KIT
2 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
3 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD
4 cytoplasm GO:0005737 10.17 ACTC1 CD34 DES ENO2 FLT3 HSP90AA1
5 membrane GO:0016020 10.16 ACTC1 CD34 DES ENO2 FLT3 HSP90AA1

Biological processes related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

(show all 29)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.98 ACTC1 CD34 KIT NTRK3 VIM
2 MAPK cascade GO:0000165 9.94 KIT KITLG PDGFRA PDGFRB
3 positive regulation of cell migration GO:0030335 9.91 KIT NTRK3 PDGFRA PDGFRB
4 positive regulation of cell proliferation GO:0008284 9.91 FLT3 KIT KITLG NTRK3 PDGFRA PDGFRB
5 protein autophosphorylation GO:0046777 9.89 FLT3 KIT NTRK3 PDGFRA PDGFRB
6 phosphatidylinositol-mediated signaling GO:0048015 9.84 KIT KITLG PDGFRA PDGFRB
7 phosphatidylinositol phosphorylation GO:0046854 9.83 KIT KITLG PDGFRA PDGFRB
8 hemopoiesis GO:0030097 9.81 CD34 FLT3 KIT
9 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.81 KIT KITLG PDGFRA PDGFRB
10 cell chemotaxis GO:0060326 9.78 KIT PDGFRA PDGFRB PRKCQ
11 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 FLT3 KIT PDGFRA PDGFRB
12 muscle filament sliding GO:0030049 9.74 ACTC1 DES VIM
13 positive regulation of MAP kinase activity GO:0043406 9.73 FLT3 KIT KITLG PDGFRB
14 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.65 FLT3 KIT NTRK3 PDGFRA PDGFRB
15 succinate metabolic process GO:0006105 9.63 SDHA SDHB
16 retina vasculature development in camera-type eye GO:0061298 9.63 PDGFRA PDGFRB
17 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.62 PDGFRA PDGFRB
18 ectopic germ cell programmed cell death GO:0035234 9.62 KIT KITLG
19 myeloid progenitor cell differentiation GO:0002318 9.6 FLT3 KIT
20 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.58 SDHA SDHD
21 cardiac myofibril assembly GO:0055003 9.58 ACTC1 PDGFRA PDGFRB
22 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.56 PDGFRA PDGFRB
23 metanephric glomerular capillary formation GO:0072277 9.55 PDGFRA PDGFRB
24 positive regulation of phospholipase C activity GO:0010863 9.5 KIT PDGFRA PDGFRB
25 tricarboxylic acid cycle GO:0006099 9.46 SDHA SDHB SDHC SDHD
26 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.26 FLT3 KIT PDGFRA PDGFRB
27 peptidyl-tyrosine phosphorylation GO:0018108 9.1 FLT3 HSP90AA1 KIT NTRK3 PDGFRA PDGFRB
28 phosphorylation GO:0016310 10.09 FLT3 KIT NTRK3 PDGFRA PDGFRB PRKCQ
29 protein phosphorylation GO:0006468 10.07 FLT3 KIT NTRK3 PDGFRA PDGFRB PRKCQ

Molecular functions related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.91 FLT3 KIT NTRK3 PDGFRA PDGFRB PRKCQ
2 protein tyrosine kinase activity GO:0004713 9.73 FLT3 HSP90AA1 KIT NTRK3 PDGFRA PDGFRB
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.71 KIT KITLG PDGFRA PDGFRB
4 electron carrier activity GO:0009055 9.67 SDHA SDHB SDHC SDHD
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.62 KIT KITLG PDGFRA PDGFRB
6 platelet-derived growth factor binding GO:0048407 9.54 PDGFRA PDGFRB
7 vascular endothelial growth factor-activated receptor activity GO:0005021 9.49 FLT3 PDGFRA
8 ubiquinone binding GO:0048039 9.48 SDHB SDHD
9 vascular endothelial growth factor binding GO:0038085 9.46 PDGFRA PDGFRB
10 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.33 SDHA SDHB SDHD
11 succinate dehydrogenase activity GO:0000104 9.13 SDHA SDHC SDHD
12 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.02 FLT3 KIT NTRK3 PDGFRA PDGFRB
13 ATP binding GO:0005524 10.11 ACTC1 FLT3 HSP90AA1 KIT NTRK3 PDGFRA
14 kinase activity GO:0016301 10 FLT3 KIT NTRK3 PDGFRA PDGFRB PRKCQ

Sources for Gastrointestinal Stromal Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....