MCID: GST019
MIFTS: 74

Gastrointestinal Stromal Tumor malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases categories

Aliases & Classifications for Gastrointestinal Stromal Tumor

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 39NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Gastrointestinal Stromal Tumor:

Name: Gastrointestinal Stromal Tumor 46 8 9 42 21 10 44 48
Gastrointestinal Stromal Sarcoma 42 21 48 61
Gastrointestinal Stromal Tumors 42 20 22 61
Gist 8 42 21 48
Gastrointestinal Stromal Tumor of the Gastrointestinal Tract 61
Paraganglioma and Gastric Stromal Sarcoma 61
 
Gastrointestinal Stromal Tumor, Familial 46
Stromal Tumor of Gastrointestinal Tract 8
Gastrointestinal Stromal Tumor, Somatic 46
Gastrointestinal Stromal Neoplasm 21
Plexosarcoma 61
Gant 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
gastrointestinal stromal tumor:
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Adult


External Ids:

OMIM46 606764
Disease Ontology8 DOID:9253
NCIt39 C3868
MeSH33 D046152
Orphanet48 44890
MESH via Orphanet34 D046152
ICD10 via Orphanet26 C26.9
UMLS via Orphanet62 C0238198

Summaries for Gastrointestinal Stromal Tumor

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OMIM:46 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 gastrointestinal stromal sarcoma, is related to fibromatosis and neurofibromatosis, and has symptoms including neoplasm of the stomach, sarcoma and nausea and vomiting. An important gene associated with Gastrointestinal Stromal Tumor is KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog), and among its related pathways are Osteoblast Signaling and Cardiac Progenitor Differentiation. The compounds monochloroacetic acid and pkc 412 have been mentioned in the context of this disorder. Affiliated tissues include small intestine, colon and smooth muscle, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

NIH Rare Diseases:42 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

Genetics Home Reference:21 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).

Wikipedia:64 Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the... more...

Related Diseases for Gastrointestinal Stromal Tumor

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

(show top 50)    (show all 276)
idRelated DiseaseScoreTop Affiliating Genes
1fibromatosis31.3CD34, KIT, S100A1, PDGFRB, ACTC1, VIM
2neurofibromatosis31.2NF2, PDGFRA, SDHC, SDHB
3leiomyoma31.1CD34, KIT, S100B, S100A1, PDGFRA, ACTC1
4myeloid leukemia31.1CD34, KITLG, KIT, CSF1R, FLT3
5adenosarcoma31.1ACTC1, DES
6adenocarcinoma31.0CD34, NF2, KITLG, PDGFRB, CSF1R, ITGA6
7granular cell tumor31.0S100B, S100A1, VIM, DES
8leiomyosarcoma31.0CD34, KIT, S100B, S100A1, PDGFRB, PDGFRA
9urticaria pigmentosa31.0KITLG, KIT
10perineurioma30.9CD34, S100B, VIM
11refractory anemia30.9KITLG, KIT, FLT3
12leukemia30.9CD34, KITLG, KIT, PDGFRB, PDGFRA, CSF1R
13mastocytosis30.9KITLG, KIT, PDGFRB, PDGFRA
14angiosarcoma30.8CD34, PDGFRA, ACTC1, VIM
15adenoma30.8KITLG, S100A1, ITGA6, ACTC1, NES, MKI67
16hepatocellular carcinoma30.8CD34, PDGFRA, CSF1R, ITGA6, MKI67
17endometriosis30.8PDGFRA, ITGA6, ACTC1
18carney triad30.7KIT, PDGFRA, SDHC, SDHB
19malignant peripheral nerve sheath tumor30.7CD34, NF2, KIT, S100B, S100A1, PDGFRA
20hemangiopericytoma30.6CD34, S100B, S100A1, ACTC1, VIM, DES
21colorectal cancer30.6CD34, NF2, KITLG, PDGFRB, PDGFRA
22smooth muscle tumor30.5KIT, S100B, S100A1, ACTC1, VIM, MKI67
23myelodysplastic syndrome30.5CD34, KITLG, KIT, PDGFRB, PDGFRA, CSF1R
24glomus tumor30.5S100A1, ACTC1, VIM, SDHB, DES
25dermatofibrosarcoma protuberans30.4CD34, KIT, S100B, S100A1, PDGFRB, ACTC1
26breast cancer30.4NF2, S100A1, CSF1R, ITGA6, ACTC1, VIM
27sarcoma30.3CD34, NF2, KITLG, KIT, S100B, S100A1
28paraganglioma and gastric stromal sarcoma30.3SDHC, SDHB
29paraganglioma30.3KIT, S100B, S100A1, SDHA, SDHC, SDHB
30ewing sarcoma30.3KITLG, KIT, S100B, S100A1, PDGFRB, PDGFRA
31chondroma30.2PDGFRA, SDHC, SDHB
32neurofibroma30.2CD34, NF2, KITLG, KIT, S100B, S100A1
33multiple endocrine neoplasia30.2NF2, SDHC, SDHB
34melanoma29.9CD34, NF2, KITLG, KIT, S100B, S100A1
35duodenitis10.8
36neurofibromatosis, type 110.7
37pancreatitis10.7
38esophagitis10.7
39infantile myofibromatosis10.6DES
40fibrous histiocytoma10.6CD34
41mixed glioma10.6PDGFRA
42rosai-dorfman disease10.6S100B
43intussusception10.6
44histiocytosis10.6S100B
45ganglioglioma10.6S100B
46papilloma10.6ACTC1
47fasciitis10.6ACTC1
48hemangioendothelioma10.6CD34
49syringoma10.6S100B, S100A1
50myeloid sarcoma10.6CD34

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



Diseases related to gastrointestinal stromal tumor

Symptoms for Gastrointestinal Stromal Tumor

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Symptoms by clinical synopsis from OMIM:

606764

Clinical features from OMIM:

606764

Symptoms:

 48 (show all 18)
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • sarcoma
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • constipation
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • intestinal obstruction/ileus
  • intestinal perforation
  • asthenia/fatigue/weakness
  • cutaneous rash
  • irregular/in bands/reticular skin hyperpigmentation
  • hepatitis/icterus/cholestasis
  • anaemia
  • digestive neoplasm/tumor/carcinoma/cancer
  • esophageal neoplasm/tumor/carcinoma/cancer
  • small bowel neoplasm/tumor/carcinoma/cancer
  • colon neoplasm/tumor/carcinoma/cancer
  • rectum/rectal neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Gastrointestinal Stromal Tumor:

(show all 25)
id Description Frequency HPO Source Accession
1 neoplasm of the stomach hallmark (90%) HP:0006753
2 sarcoma hallmark (90%) HP:0100242
3 nausea and vomiting typical (50%) HP:0002017
4 constipation typical (50%) HP:0002019
5 gastrointestinal hemorrhage typical (50%) HP:0002239
6 intestinal obstruction typical (50%) HP:0005214
7 feeding difficulties in infancy typical (50%) HP:0008872
8 skin rash occasional (7.5%) HP:0000988
9 abnormality of the liver occasional (7.5%) HP:0001392
10 anemia occasional (7.5%) HP:0001903
11 irregular hyperpigmentation occasional (7.5%) HP:0007400
12 neoplasm of the colon occasional (7.5%) HP:0100273
13 neoplasm of the rectum occasional (7.5%) HP:0100743
14 esophageal neoplasm occasional (7.5%) HP:0100751
15 neoplasm of the small intestine occasional (7.5%) HP:0100833
16 autosomal dominant inheritance HP:0000006
17 hyperpigmentation of the skin HP:0000953
18 urticaria HP:0001025
19 neurofibromas HP:0001067
20 large hands HP:0001176
21 dysphagia HP:0002015
22 constipation HP:0002019
23 sporadic HP:0003745
24 intestinal obstruction HP:0005214
25 gastrointestinal stroma tumor HP:0100723

Drugs & Therapeutics for Gastrointestinal Stromal Tumor

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FDA approved drugs:

id Drug Name Active Ingredient(s)13 Pharmaceutical Company Approval Date
1
Gleevec13 38 IMATINIB MESYLATE Novartis Approved May 2001
FDA Label: Gleevec
Malady that Drug Treats: chronic myeloid leukemia/Gastrointestinal stromal tumors (GISTs)
Indications and Usage:13 Gleevec"! (imatinib mesylate) is indicated for the treatment of newly diagnosed adult; patients with Philadelphia chromosome positive chronic myeloid leukemia (CML) in chronic; phase. Follow-up is limited. ; Page 10; Gleevec is also indicated for the treatment of patients with Philadelphia chromosome; positive chronic myeloid leukemia (CML) in blast crisis, accelerated phase, or in chronic; phase after failure of interferon-alpha therapy. Gleevec is also indicated for the treatment of; pediatric patients with Ph+ chronic phase CML whose disease has recurred after stem cell; transplant or who are resistant to interferon alpha therapy. There are no controlled trials; demonstrating a clinical benefit, such as improvement in disease-related symptoms or; increased survival.; Gleevec is also indicated for the treatment of patients with Kit (CD117) positive; unresectable and/or metastatic malignant gastrointestinal stromal tumors (GIST). (See; CLINICAL STUDIES: Gastrointestinal Stromal Tumors.) The effectiveness of Gleevec in; GIST is based on objective response rate (see CLINICAL STUDIES). There are no controlled; trials demonstrating a clinical benefit, such as improvement in disease-related symptoms or; increased survival.
DrugBank Targets:11 1. BCR/ABL fusion protein isoform X9; 2. Mast/stem cell growth factor receptor Kit; 3. RET proto-oncogene; 4. High affinity nerve growth factor receptor; 5. Macrophage colony-stimulating factor 1 receptor; 6. Platelet-derived growth factor receptor alpha; 7. Epithelial discoidin domain-containing receptor 1; 8. Tyrosine-protein kinase ABL1; 9. Platelet-derived growth factor receptor beta
Mechanism of Action:13 
Target: protein-tyrosine kinase
Action: inhibitor
FDA: Imatinib mesylate is a protein-tyrosine kinase inhibitor that inhibits the Bcr-Abl tyrosine; kinase, the constitutive abnormal tyrosine kinase created by the Philadelphia chromosome; abnormality in chronic myeloid leukemia (CML). It inhibits proliferation and induces; apoptosis in Bcr-Abl positive cell lines as well as fresh leukemic cells from Philadelphia; chromosome positive chronic myeloid leukemia. In colony formation assays using ex vivo; peripheral blood and bone marrow samples, imatinib shows inhibition of Bcr-Abl positive; colonies from CML patients.; In vivo, it inhibits tumor growth of Bcr-Abl transfected murine myeloid cells as well; as Bcr-Abl positive leukemia lines derived from CML patients in blast crisis.; Imatinib is also an inhibitor of the receptor tyrosine kinases for platelet-derived; growth factor (PDGF) and stem cell factor (SCF), c-kit, and inhibits PDGF- and; SCF-mediated cellular events. In vitro, imatinib inhibits proliferation and induces apoptosis in; gastrointestinal stromal tumor (GIST) cells, which express an activating c-kit mutation.
2
Stivarga13 38 REGORAFENIB Bayer/ Bayer HealthCare Pharmaceuticals Approved February 2013/ Approved September 2012
FDA Label: Stivarga
Malady that Drug Treats: gastrointestinal stromal tumor/ metastatic colorectal cancer
Indications and Usage:13 Stivarga is a kinase inhibitor indicated for the treatment of patients with:; Metastatic colorectal cancer (CRC) who have been previously treated with; fluoropyrimidine-, oxaliplatin- and irinotecan-based chemotherapy, an antiVEGF; therapy, and, if KRAS wild type, an anti-EGFR therapy. (1.1); Locally advanced, unresectable or metastatic gastrointestinal stromal tumor; (GIST) who have been previously treated with imatinib mesylate and; sunitinib malate. (1.2)
DrugBank Targets:11 1. Proto-oncogene tyrosine-protein kinase receptor Ret; 2. Vascular endothelial growth factor receptor 1; 3. Vascular endothelial growth factor receptor 2; 4. Vascular endothelial growth factor receptor 3; 5. Mast/stem cell growth factor receptor Kit; 6. Platelet-derived growth factor receptor alpha; 7. Platelet-derived growth factor receptor beta; 8. Fibroblast growth factor receptor 1; 9. Fibroblast growth factor receptor 2; 10. Angiopoietin-1 receptor; 11. Discoidin domain-containing receptor 2; 12. High affinity nerve growth factor receptor; 13. Ephrin type-A receptor 2; 14. RAF proto-oncogene serine/threonine-protein kinase; 15. Serine/threonine-protein kinase B-raf; 16. Mitogen-activated protein kinase 11; 17. Tyrosine-protein kinase FRK; 18. Tyrosine-protein kinase ABL1
Mechanism of Action:13 
Target: RET, VEGFR1, VEGFR2, VEGFR3, KIT, PDGFR-alpha, PDGFR-beta, FGFR1, FGFR2,; TIE2, DDR2, TrkA, Eph2A, RAF-1, BRAF, BRAFV600E , SAPK2, PTK5, and Abl kinases
Action: inhibitor
FDA: Regorafenib is a small molecule inhibitor of multiple membrane-bound and intracellular kinases involved in normal; cellular functions and in pathologic processes such as oncogenesis, tumor angiogenesis, and maintenance of the tumor; microenvironment. In in vitro biochemical or cellular assays, regorafenib or its major human active metabolites M-2 and; M-5 inhibited the activity of RET, VEGFR1, VEGFR2, VEGFR3, KIT, PDGFR-alpha, PDGFR-beta, FGFR1, FGFR2,; TIE2, DDR2, TrkA, Eph2A, RAF-1, BRAF, BRAFV600E , SAPK2, PTK5, and Abl at concentrations of regorafenib that; have been achieved clinically. In in vivo models, regorafenib demonstrated anti-angiogenic activity in a rat tumor model,; and inhibition of tumor growth as well as anti-metastatic activity in several mouse xenograft models including some for; human colorectal carcinoma.
3
Sutent13 38 SUNITINIB MALATE Pfizer Approved May 2011/ Approved January 2006
FDA Label: Sutent
Malady that Drug Treats: pancreatic neuroendocrine tumors/ Kidney Cancer/Gastrointestinal Stromal Tumors
Indications and Usage:13 SUTENT is a kinase inhibitor indicated for the treatment of:; Gastrointestinal stromal tumor (GIST) after disease progression on or; intolerance to imatinib mesylate. (1.1); Advanced renal cell carcinoma (RCC). (1.2); Progressive, well-differentiated pancreatic neuroendocrine tumors; (pNET) in patients with unresectable locally advanced or metastatic; disease. (1.3)
DrugBank Targets:11 1. Platelet-derived growth factor receptor beta; 2. Vascular endothelial growth factor receptor 1; 3. Mast/stem cell growth factor receptor Kit; 4. Vascular endothelial growth factor receptor 2; 5. Vascular endothelial growth factor receptor 3; 6. Receptor-type tyrosine-protein kinase FLT3; 7. Macrophage colony-stimulating factor 1 receptor; 8. Platelet-derived growth factor receptor alpha
Mechanism of Action:13 
Target: variety of kinases, platelet-derived growth factor receptors (PDGFR± and PDGFR²), vascular endothelial growth factor; receptors (VEGFR1, VEGFR2 and VEGFR3), stem cell factor receptor (KIT), Fms-like tyrosine kinase-3; (FLT3), colony stimulating factor receptor Type 1 (CSF-1R), and the glial cell-line derived neurotrophic factor; receptor (RET)
Action: inhibitor
FDA: Sunitinib is a small molecule that inhibits multiple receptor tyrosine kinases (RTKs), some of which are; implicated in tumor growth, pathologic angiogenesis, and metastatic progression of cancer. Sunitinib was; evaluated for its inhibitory activity against a variety of kinases (>80 kinases) and was identified as an inhibitor; of platelet-derived growth factor receptors (PDGFR± and PDGFR²), vascular endothelial growth factor; receptors (VEGFR1, VEGFR2 and VEGFR3), stem cell factor receptor (KIT), Fms-like tyrosine kinase-3; (FLT3), colony stimulating factor receptor Type 1 (CSF-1R), and the glial cell-line derived neurotrophic factor; receptor (RET). Sunitinib inhibition of the activity of these RTKs has been demonstrated in biochemical and; cellular assays, and inhibition of function has been demonstrated in cell proliferation assays. The primary; metabolite exhibits similar potency compared to sunitinib in biochemical and cellular assays.; Sunitinib inhibited the phosphorylation of multiple RTKs (PDGFRbð, VEGFR2, KIT) in tumor xenografts; expressing RTK targets in vivo and demonstrated inhibition of tumor growth or tumor regression and/or; inhibited metastases in some experimental models of cancer. Sunitinib demonstrated the ability to inhibit; growth of tumor cells expressing dysregulated target RTKs (PDGFR, RET, or KIT) in vitro and to inhibit; PDGFRbð- and VEGFR2-dependent tumor angiogenesis in vivo.

Drug clinical trials:

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Search NIH Clinical Center for Gastrointestinal Stromal Tumor

Genetic Tests for Gastrointestinal Stromal Tumor

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Genetic tests related to Gastrointestinal Stromal Tumor:

id Genetic test Affiliating Genes
1 Gastrointestinal Stromal Tumor20 PDGFRA
2 Gastrointestinal Stromal Tumors22

Anatomical Context for Gastrointestinal Stromal Tumor

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MalaCards organs/tissues related to Gastrointestinal Stromal Tumor:

31
Small intestine, Colon, Smooth muscle, Liver, Skin, Bone, Pancreas, Lymph node, Prostate, Endothelial, Testes, Myeloid, Appendix, Brain, Thyroid, Bone marrow, Spleen, Heart, Skeletal muscle, Breast, Ovary, Uterus, T cells, B cells, Tongue, Neutrophil

Animal Models for Gastrointestinal Stromal Tumor or affiliated genes

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MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor:

35 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.7KIT, PDGFRA, CSF1R, ITGA6, KITLG
2MP:00053779.6CSF1R, KIT, KITLG, ITGA6, NF2
3MP:00053829.5ITGA6, CSF1R, PDGFRA, PDGFRB, NF2, KIT
4MP:00020069.5KIT, PDGFRA, ITGA6, KITLG, NF2, CD34
5MP:00053919.5ITGA6, PDGFRB, KIT, KITLG, VIM, SDHC
6MP:00053699.4KIT, S100A1, PDGFRB, PDGFRA, ACTC1, ETV1
7MP:00053809.4KITLG, PDGFRA, NF2, KIT, PDGFRB, ITGA6
8MP:00053799.4NF2, PDGFRA, CSF1R, KITLG, PDGFRB, KIT
9MP:00053859.2ITGA6, ACTC1, VIM, DES, S100A1, KIT
10MP:00107719.2ITGA6, S100B, KITLG, KIT, PDGFRB, PDGFRA
11MP:00028739.2KIT, S100B, S100A1, PDGFRA, ACTC1, ETV1
12MP:00036319.1VIM, NES, ETV1, ITGA6, PDGFRA, KIT
13MP:00053979.0PDGFRB, PDGFRA, FLT3, VIM, ITGA6, KITLG
14MP:00053899.0KITLG, KIT, PDGFRB, PDGFRA, CSF1R, VIM
15MP:00053869.0ETV1, KIT, DES, VIM, NF2, NES
16MP:00053878.9FLT3, CSF1R, ITGA6, PDGFRA, PDGFRB, KIT
17MP:00053768.8CD34, KIT, PDGFRB, PDGFRA, NF2, ACTC1
18MP:00053788.7CSF1R, ITGA6, ETV1, ACTC1, PDGFRA, NES
19MP:00053848.6ETV1, ITGA6, VIM, CSF1R, PDGFRA, PDGFRB
20MP:00107688.4PDGFRA, ITGA6, ACTC1, ETV1, NES, VIM

Publications for Gastrointestinal Stromal Tumor

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Articles related to Gastrointestinal Stromal Tumor:

(show top 50)    (show all 1151)
idTitleAuthorsYear
1
Inhibition of KIT-Glycosylation by 2-Deoxyglucose Abrogates KIT-Signaling and Combination with ABT-263 Synergistically Induces Apoptosis in Gastrointestinal Stromal Tumor. (25781619)
2015
2
Gastric Schwannoma mimicking malignant gastrointestinal stromal tumor and misdiagnosed by (18)F-FDG PET/CT. (25840576)
2015
3
Chromosomal aberrations in primary PDGFRA-mutated gastrointestinal stromal tumors. (24157063)
2014
4
Angiomatous leiomyoma of the urachus: A rare entity masquerading as extraluminal gastrointestinal stromal tumor. (24049386)
2013
5
Single-incision laparoscopic and endoscopic cooperative surgery for gastrointestinal stromal tumor arising from the duodenum. (24308591)
2013
6
Gastrointestinal stromal tumor of small intestine and synchronous bilateral papillary renal cell carcinoma. (24195178)
2013
7
Gastrointestinal stromal tumor: an unusual cause of gastrointestinal bleeding. (23633157)
2013
8
Gastrointestinal stromal tumor with dedifferentiation to undifferentiated pleomorphic sarcoma. (24200161)
2013
9
Dedifferentiation in gastrointestinal stromal tumor to an anaplastic KIT-negative phenotype: a diagnostic pitfall: morphologic and molecular characterization of 8 cases occurring either de novo or after imatinib therapy. (23348204)
2013
10
Co-expression of monocarboxylate transporter 1 (MCT1) and its chaperone (CD147) is associated with low survival in patients with gastrointestinal stromal tumors (GISTs). (22281667)
2012
11
Surgical treatment of a giant mesenteric fibromatosis mimicking a gastrointestinal stromal tumor: a case report and current treatment aspects. (23175930)
2012
12
GLP-2 receptors in human disease: high expression in gastrointestinal stromal tumors and Crohn's disease. (22951144)
2012
13
A Case of KIT-Negative Extra-Gastrointestinal Stromal Tumor of the Lesser Omentum. (22855655)
2012
14
Multifocal gastric gastrointestinal stromal tumors (GISTs) with lymph node metastases in children and young adults: a comparative clinical and histomorphological study of three cases including a new case of Carney triad. (21663639)
2011
15
Synchronous double tumor of breast cancer and gastrointestinal stromal tumor in a patient with neurofibromatosis type 1: report of a case. (22199319)
2011
16
Frequency, phenotype, and genotype of minute gastrointestinal stromal tumors in the stomach: an autopsy study. (21658742)
2011
17
Gastrointestinal stromal tumor presenting as dyspareunia. (22234771)
2011
18
CT features, mimics and atypical presentations of gastrointestinal stromal tumor (GIST). (22013291)
2011
19
Recurring gastrointestinal stromal tumor with splenic metastasis. (22319733)
2011
20
Unusual metastases of gastrointestinal stromal tumor and genotypic correlates: Case report and review of the literature. (22811827)
2011
21
Comparison of RECIST and Choi criteria for computed tomographic response evaluation in patients with advanced gastrointestinal stromal tumor treated with sunitinib. (21289369)
2011
22
First report of connexin 43-positive gastrointestinal stromal tumor (GIST). (21462830)
2010
23
Is laparoscopic resection the appropriate management of a jejunal gastrointestinal stromal tumor (GIST)? Report of a case. (20975491)
2010
24
Detection of treatment-induced changes in signaling pathways in gastrointestinal stromal tumors using transcriptomic data. (19903850)
2009
25
Kinase mutations and efficacy of imatinib in Korean patients with advanced gastrointestinal stromal tumors. (19411681)
2009
26
Aberrations of chromosome 13q in gastrointestinal stromal tumors: analysis of 91 cases by fluorescence in situ hybridization (FISH). (19430298)
2009
27
Expression of CD117, CD34, SMA, S-100 protein, Vim and desmin in patients with gastrointestinal stromal tumors]. (18359707)
2008
28
PDGFRalpha gene mutation and protein expression in gastrointestinal stromal tumors. (18547963)
2008
29
Site-dependent differential KIT and PDGFRA expression in gastric and intestinal gastrointestinal stromal tumors. (17673922)
2007
30
Imatinib in gastrointestinal stromal tumor treatment--results from University Hospital Centre Zagreb]. (16910417)
2006
31
Gastrointestinal stromal tumors express the orexigen ghrelin. (16954444)
2006
32
Malignant gastrointestinal stromal tumor of the ampulla of Vater presenting with obstructive jaundice. (16855323)
2006
33
Interobserver variability in histologic recognition, interpretation of KIT immunostaining, and determining MIB-1 labeling indices in gastrointestinal stromal tumors and other spindle cell tumors of the gastrointestinal tract. (16540730)
2006
34
Polyclonal evolution of multiple secondary KIT mutations in gastrointestinal stromal tumors under treatment with imatinib mesylate. (16551858)
2006
35
A long-term survival case with multiple liver metastases from duodenal gastrointestinal stromal tumor that was drastically reduced by the treatment with imatinib]. (16315926)
2005
36
Hypoxia-inducible factor-1alpha is associated with risk of aggressive behavior and tumor angiogenesis in gastrointestinal stromal tumor. (15845570)
2005
37
Serum KIT and KIT ligand levels in patients with gastrointestinal stromal tumors treated with imatinib. (15070666)
2004
38
Current clinical management of gastrointestinal stromal tumors. (15270663)
2004
39
Malignant gastrointestinal stromal tumor originating in the lesser omentum, complicated by rapidly progressive glomerulonephritis and gastric carcinoma. (15005250)
2004
40
A new mutation in the KIT ATP pocket causes acquired resistance to imatinib in a gastrointestinal stromal tumor patient. (15236194)
2004
41
Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase. (12754375)
2003
42
PDGFRA activating mutations in gastrointestinal stromal tumors. (12522257)
2003
43
Secondary amyloidosis and gastrointestinal stromal tumors. A case report and discussion of pathogenesis. (12683877)
2003
44
Prognostic predictors of gastrointestinal stromal tumors: a multi-institutional analysis of 102 patients with definition of a prognostic index. (12875864)
2003
45
Hypoxia-inducible factor-1alpha expression and angiogenesis in gastrointestinal stromal tumor of the stomach. (12792726)
2003
46
Approval summary: imatinib mesylate in the treatment of metastatic and/or unresectable malignant gastrointestinal stromal tumors. (12374669)
2002
47
Specific mutation in exon 11 of c-kit proto-oncogene in a malignant gastrointestinal stromal tumor of the rectum. (11063223)
2000
48
C-kit gene abnormalities in gastrointestinal stromal tumors (tumors of interstitial cells of Cajal. (10665649)
1999
49
Mutations of c-kit JM domain are found in a minority of human gastrointestinal stromal tumors. (10086344)
1999
50
The gastric hypercellular microleiomyoma as a precursor lesion for clinical gastrointestinal stromal tumors. (9416690)
1997

Variations for Gastrointestinal Stromal Tumor

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

63
id Symbol AA change Variation ID SNP ID
1KITp.Lys550IleVAR_033123rs28933968
2KITp.Val559AlaVAR_033126
3KITp.Val559AspVAR_033127
4PDGFRAp.Tyr849CysVAR_066474

Clinvar genetic disease variations for Gastrointestinal Stromal Tumor:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1SDHBNM_003000.2(SDHB): c.725G> A (p.Arg242His)single nucleotide variantPathogenicrs74315368GRCh37Chr 1, 17349143: 17349143
2PDGFRANM_006206.4(PDGFRA): c.2525A> T (p.Asp842Val)single nucleotide variantPathogenicrs121908585GRCh37Chr 4, 55152093: 55152093
3PDGFRAPDGFRA, 4-CODON DEL, 842DIMHdeletionPathogenic
4PDGFRAPDGFRA, 4-CODON DEL, 845HDSNdeletionPathogenic
5PDGFRANM_006206.4(PDGFRA): c.1682T> A (p.Val561Asp)single nucleotide variantPathogenicrs121908586GRCh37Chr 4, 55141036: 55141036
6PDGFRAPDGFRA, 2-CODON INS, 561ERinsertionPathogenic
7PDGFRAPDGFRA, 5-CODON DEL, 560RVIESdeletionPathogenic
8PDGFRAPDGFRA, 6-CODON DEL, 566SPDGHEdeletionPathogenic
9KITKIT, 6-BP DELdeletionPathogenic
10KITKIT, 15-BP DELdeletionPathogenic
11KITKIT, 15-BP DEL/LYS550ILEdeletionPathogenic
12KITNM_000222.2(KIT): c.1676T> A (p.Val559Asp)single nucleotide variantPathogenicrs121913517GRCh37Chr 4, 55593610: 55593610
13KITKIT, 27-BP DELdeletionPathogenic
14SDHCNM_003001.3(SDHC): c.405+1G> Asingle nucleotide variantPathogenicGRCh37Chr 1, 161326631: 161326631

Expression for genes affiliated with Gastrointestinal Stromal Tumor

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

Pathways for genes affiliated with Gastrointestinal Stromal Tumor

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

(show all 35)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2PDGFRB, PDGFRA
210.1PDGFRA, ACTC1, KIT
3
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
10.1SDHC, SDHA, SDHB
4
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
10.1SDHA, SDHC, SDHB
510.0ITGA6, PDGFRB, PDGFRA
6
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
10.0ACTC1, DES, ITGA6
710.0PDGFRB, NF2, PDGFRA
8
Show member pathways
10.0ACTC1, VIM, DES
9
Show member pathways
9.9KITLG, PDGFRB, PDGFRA, KIT
10
Show member pathways
9.9PDGFRB, KITLG, KIT, PDGFRA
11
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
9.9KITLG, KIT, PDGFRB, PDGFRA
12
Show member pathways
9.8KIT, PDGFRB, PDGFRA, FLT3
139.8ACTC1, VIM, DES, NF2
14
Show member pathways
9.7KITLG, KIT, PDGFRB, ITGA6, PDGFRA
15
Show member pathways
9.7KIT, PDGFRB, KITLG, PDGFRA, ITGA6
169.7KITLG, KIT, CD34, CSF1R
17
Show member pathways
9.7KIT, S100B, PDGFRB, KITLG, PDGFRA
18
Show member pathways
9.7PDGFRB, KIT, KITLG, PDGFRA, CSF1R
19
Show member pathways
9.7KITLG, KIT, PDGFRB, CSF1R, PDGFRA
20
Show member pathways
9.7KITLG, KIT, PDGFRB, PDGFRA, CSF1R
21
Show member pathways
9.6KIT, PDGFRB, CD34, KITLG, PDGFRA
229.5PDGFRA, KITLG, KIT, ITGA6, CSF1R, PDGFRB
23
Show member pathways
9.5PDGFRA, PDGFRB, KIT, KITLG, CSF1R, FLT3
24
Show member pathways
9.5FLT3, CSF1R, PDGFRA, PDGFRB, KIT, KITLG
259.5PDGFRA, PDGFRB, KIT, CSF1R, KITLG, FLT3
26
Show member pathways
9.5KIT, KITLG, PDGFRB, CSF1R, FLT3, PDGFRA
27
Show member pathways
9.5KIT, PDGFRB, CSF1R, ITGA6, FLT3, PDGFRA
289.3CD34, ITGA6, CSF1R, KIT, KITLG, FLT3
29
Show member pathways
9.3PDGFRB, FLT3, ITGA6, PDGFRA, KITLG, KIT
30
Show member pathways
9.3ITGA6, CSF1R, PDGFRA, PDGFRB, KIT, KITLG
319.3KIT, PDGFRA, PDGFRB, KITLG, FLT3, CSF1R
32
Show member pathways
9.3KITLG, FLT3, PDGFRA, CSF1R, PDGFRB, KIT
33
Show member pathways
9.1PDGFRB, KIT, KITLG, CSF1R, ETV1, ITGA6
34
Show member pathways
8.9PDGFRB, ITGA6, VIM, FLT3, DES, KIT

Compounds for genes affiliated with Gastrointestinal Stromal Tumor

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

(show top 50)    (show all 132)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid4410.3VIM, KITLG, KIT
2pkc 4124410.2FLT3, KIT, PDGFRB, PDGFRA
3orcein4410.2S100B, ACTC1, VIM, DES
4s 1004410.2VIM, DES, ACTC1, S100B
5Fumaric acid2410.2SDHB, SDHC, SDHA
6su54164410.2FLT3, KITLG, KIT, PDGFRB
7ag-12964410.1PDGFRA, KIT, FLT3, PDGFRB, KITLG
8sunitinib44 50 1112.0PDGFRB, CSF1R, KIT, FLT3, PDGFRA
9toluidine4410.0KITLG, KIT, VIM, DES, S100A1
10mucicarmine4410.0ACTC1, S100A1, S100B, DES, VIM
11reticulin4410.0VIM, ACTC1, CD34, S100B, DES
12b 7234410.0ACTC1, DES, VIM, S100B, S100A1
13methylcellulose449.9FLT3, CD34, KITLG, KIT
14cytarabine44 50 1111.8CSF1R, FLT3, KITLG, VIM, KIT
15formaldehyde44 2410.8ACTC1, DES, VIM, KIT, MKI67, S100B
16agarose449.8ITGA6, S100B, KIT, KITLG, FLT3
17tgf beta1449.8PDGFRB, MKI67, FLT3, VIM, PDGFRA, KITLG
18biotin44 24 1111.8VIM, KITLG, S100A1, ACTC1, MKI67, DES
19phosphotyrosine449.7KIT, FLT3, ITGA6, CSF1R, PDGFRA, PDGFRB
20methionine449.7PDGFRB, VIM, S100B, DES, CSF1R, KIT
21paclitaxel44 50 1111.7VIM, MKI67, PDGFRB, KIT, KITLG, S100B
22rapamycin449.7FLT3, VIM, KITLG, PDGFRB, KIT, PDGFRA
23bromodeoxyuridine449.7NES, PDGFRB, S100B, KITLG, VIM, MKI67
24methotrexate50 44 1111.6VIM, MKI67, KIT, ITGA6, KITLG
25agar449.6CSF1R, VIM, CD34, NF2, PDGFRB, KITLG
26dmso449.6CSF1R, VIM, SDHB, NES, KITLG
27doxorubicin44 50 1111.6MKI67, FLT3, KITLG, DES, VIM, KIT
282-methoxyethanol449.6ACTC1, VIM, S100A1
29glycogen44 2410.5SDHB, MKI67, VIM, DES, ACTC1, S100A1
30lactate449.5VIM, DES, MKI67, SDHB, KITLG, KIT
31steroid449.5KIT, KITLG, DES, S100B, CSF1R, ACTC1
32thymidine44 2410.4FLT3, PDGFRA, DES, KIT, KITLG, CD34
33imatinib44 50 1111.4KITLG, KIT, S100B, PDGFRB, PDGFRA, CSF1R
34hematoxylin449.4DES, S100B, KIT, CD34, MKI67, VIM
35iron44 2410.4S100B, KITLG, S100A1, ACTC1, VIM, SDHA
36glucose449.4KIT, S100B, PDGFRB, ACTC1, NES, SDHB
37threonine449.3MKI67, FLT3, CSF1R, PDGFRB, S100B, KIT
38atp44 2810.3SDHB, KIT, S100B, PDGFRB, PDGFRA, CSF1R
39oligonucleotide449.3VIM, ITGA6, CSF1R, PDGFRA, PDGFRB, KIT
40oxygen44 2410.3S100B, DES, KITLG, MKI67, SDHB, SDHC
41cysteine449.2KIT, NF2, VIM, S100B, S100A1, PDGFRB
42testosterone44 60 24 1112.2SDHB, S100B, KIT, KITLG, ACTC1, ETV1
43serine449.0PDGFRB, CSF1R, NF2, KITLG, KIT, S100B
44calcium44 50 24 1111.7PDGFRA, PDGFRB, S100A1, S100B, KIT, KITLG
45estrogen448.6NES, VIM, MKI67, DES, ACTC1, CSF1R
46progesterone44 28 60 24 1112.5VIM, MKI67, CD34, NF2, KIT, S100B
47paraffin448.4VIM, MKI67, NES, ACTC1, DES, CD34
48vegf448.2SDHC, FLT3, VIM, NES, ACTC1, ITGA6
49retinoic acid44 249.1VIM, FLT3, SDHC, MKI67, DES, NES
50tyrosine447.9CSF1R, ITGA6, ACTC1, ETV1, PDGFRA, PDGFRB

GO Terms for genes affiliated with Gastrointestinal Stromal Tumor

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

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of plasma membraneGO:003122610.2PDGFRB, PDGFRA
2mitochondrial respiratory chain complex IIGO:000574910.2SDHA, SDHC, SDHB
3external side of plasma membraneGO:00098979.9ITGA6, PDGFRA, KIT, CD34
4intermediate filamentGO:00058829.7NES, VIM, DES
5plasma membraneGO:00058868.8VIM, ITGA6, CSF1R, PDGFRA, PDGFRB, KIT
6cytoplasmGO:00057378.7MKI67, VIM, NES, ACTC1, PDGFRA, PDGFRB

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

(show all 38)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular capillary formationGO:007227710.5PDGFRB, PDGFRA
2positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:003809110.5PDGFRA, PDGFRB
3retina vasculature development in camera-type eyeGO:006129810.5PDGFRB, PDGFRA
4positive regulation of phospholipase C activityGO:001086310.5KIT, PDGFRA, PDGFRB
5ectopic germ cell programmed cell deathGO:003523410.5KITLG, KIT
6myeloid progenitor cell differentiationGO:000231810.5FLT3, KIT
7tricarboxylic acid cycleGO:000609910.5SDHB, SDHA, SDHC
8succinate metabolic processGO:000610510.4SDHA, SDHB
9cardiac myofibril assemblyGO:005500310.4PDGFRB, ACTC1, PDGFRA
10cell chemotaxisGO:006032610.4PDGFRB, PDGFRA, KIT
11muscle filament slidingGO:003004910.4DES, VIM, ACTC1
12regulation of actin cytoskeleton reorganizationGO:0200024910.4CSF1R, PDGFRA
13stem cell proliferationGO:007208910.3NES, CD34
14odontogenesis of dentin-containing toothGO:004247510.3PDGFRA, ITGA6, NF2
15positive regulation of MAP kinase activityGO:004340610.3KITLG, PDGFRB, FLT3
16respiratory electron transport chainGO:002290410.3SDHC, SDHB, SDHA
17positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.3PDGFRA, FLT3, KIT, PDGFRB
18phosphatidylinositol metabolic processGO:004648810.3PDGFRB, CSF1R
19positive regulation of phosphatidylinositol 3-kinase signalingGO:001406810.3PDGFRB, PDGFRA, FLT3, KIT
20fibroblast growth factor receptor signaling pathwayGO:000854310.2KITLG, PDGFRA, KIT, PDGFRB
21Fc-epsilon receptor signaling pathwayGO:003809510.2KIT, KITLG, PDGFRB, PDGFRA
22epidermal growth factor receptor signaling pathwayGO:000717310.2PDGFRB, KIT, PDGFRA, KITLG
23positive regulation of cell migrationGO:003033510.2PDGFRB, KIT, PDGFRA, CSF1R
24aerobic respirationGO:000906010.2SDHB, SDHC
25neurotrophin TRK receptor signaling pathwayGO:004801110.2PDGFRA, PDGFRB, KIT, KITLG
26cellular metabolic processGO:004423710.1SDHB, SDHC, SDHA
27positive regulation of ERK1 and ERK2 cascadeGO:007037410.1CSF1R, PDGFRA, PDGFRB
28phosphatidylinositol-mediated signalingGO:004801510.1CSF1R, PDGFRA, KITLG, KIT, PDGFRB
29hemopoiesisGO:003009710.1CSF1R, KIT, CD34, FLT3
30regulation of cell shapeGO:000836010.1CSF1R, S100B, KIT
31tissue homeostasisGO:000189410.1PDGFRB, CD34
32peptidyl-tyrosine phosphorylationGO:001810810.0CSF1R, KIT, PDGFRB, PDGFRA, FLT3
33protein autophosphorylationGO:004677710.0PDGFRA, CSF1R, PDGFRB, KIT, FLT3
34cellular response to cytokine stimulusGO:00713459.9CSF1R, FLT3
35embryonic hemopoiesisGO:00351629.9KIT, KITLG
36innate immune responseGO:00450879.9CSF1R, PDGFRA, S100B, PDGFRB, KIT, KITLG
37positive regulation of cell proliferationGO:00082849.8KIT, S100B, PDGFRB, PDGFRA, CSF1R, FLT3
38cell proliferationGO:00082839.8MKI67, CSF1R, S100B, KITLG, CD34

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:000817710.4SDHA, SDHB
2succinate dehydrogenase activityGO:000010410.4SDHA, SDHC
3vascular endothelial growth factor bindingGO:003808510.4PDGFRB, PDGFRA
4vascular endothelial growth factor-activated receptor activityGO:000502110.3FLT3, PDGFRA
5transmembrane receptor protein tyrosine kinase activityGO:000471410.2FLT3, PDGFRA, KIT
6platelet-derived growth factor bindingGO:004840710.2PDGFRB, PDGFRA
7S100 protein bindingGO:004454810.1S100B, S100A1
8phosphatidylinositol 3-kinase bindingGO:004354810.1PDGFRB, FLT3
9platelet-derived growth factor receptor bindingGO:000516110.1PDGFRA, PDGFRB
10cytokine bindingGO:00199559.8KIT, CSF1R
11protein homodimerization activityGO:00428039.6FLT3, CSF1R, PDGFRA, S100A1, S100B, KIT
12ATP bindingGO:00055249.4MKI67, FLT3, ACTC1, CSF1R, PDGFRA, PDGFRB
13protein bindingGO:00055158.1NF2, DES, MKI67, SDHB, SDHA, FLT3

Sources for Gastrointestinal Stromal Tumor

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet