General Information of Disease (ID: DIS6TJYS)

Disease Name Gastrointestinal stromal tumour
Synonyms
gastrointestinal stromal tumors; gastrointestinal stromal tumours; stromal tumour of gastrointestinal tract; gastrointestinal stromal sarcoma; stromal tumor of gastrointestinal tract; gastrointestinal stromal tumor, familial, isolated cases; gastrointestinal stromal tumor (gist); gant; gastrointestinal stromal neoplasm; gist; gastrointestinal stromal tumour (gist); Gastrointestinal Stromal Tumors; gastrointestinal stromal tumor; gastrointestinal stromal tumor, isolated cases
Disease Class 2B5B: Gastrointestinal stromal tumour
Definition
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
Disease Hierarchy
DISYKSRF: Genetic disease
DISFABII: Mesenchymal tumor of small intestine
DIS6TJYS: Gastrointestinal stromal tumour
ICD Code
ICD-11
ICD-11: 2B5B
Expand ICD-9
1.50E+29
Disease Identifiers
MONDO ID
MONDO_0011719
MESH ID
D046152
UMLS CUI
C0238198
OMIM ID
606764
MedGen ID
116049
HPO ID
HP:0100723
Orphanet ID
44890
SNOMED CT ID
1187383001

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 5 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Avapritinib DMK2GZX Approved NA [1]
Imatinib DM7RJXL Approved Small molecular drug [2]
Regorafenib DMHSY1I Approved Small molecular drug [3]
Ripretinib DM958QB Approved NA [4]
Sunitinib DMCBJSR Approved Small molecular drug [5]
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This Disease is Treated as An Indication in 8 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Bezuclastinib DMZDTYD Phase 3 Small molecule [6]
CP-868596 DMZIM37 Phase 3 Small molecular drug [7]
Masitinib DMRSNEU Phase 3 Small molecular drug [7]
BIIB 2024 DM44Z9R Phase 2 NA [8]
PLX9486 DM5DZEL Phase 1/2 Small molecular drug [9]
CDX-0158 DM9RONX Phase 1 NA [10]
DS-6157 DMTKZ1Q Phase 1 Antibody drug conjugate [11]
XmAb18087 DMB3C0Q Phase 1 NA [7]
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⏷ Show the Full List of 8 Drug(s)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 62 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CDC37 TT5SOEU Limited Biomarker [12]
GIP TT40HS5 Limited Genetic Variation [13]
KRAS TTM8FR7 Limited Biomarker [14]
MAP4K1 TTSHWUP Limited Genetic Variation [15]
SDHD TTVH9W8 Limited Genetic Variation [16]
AXL TTZPY6J moderate Biomarker [17]
CASP4 TT6KIOT moderate Genetic Variation [18]
CCKBR TTVFO0U moderate Altered Expression [19]
CES1 TTMF541 moderate Genetic Variation [20]
CRTC1 TT4GO0F moderate Biomarker [21]
EPHX2 TT7WVHI moderate Genetic Variation [20]
FCGR1A TTZK4I3 moderate Altered Expression [22]
FER TTRA9G0 moderate Genetic Variation [23]
FOLH1 TT9G4N0 moderate Biomarker [24]
HSP90AB1 TTH5YN2 moderate Altered Expression [25]
IKZF3 TTCZVFZ moderate Biomarker [26]
MAPKAPK2 TTMUG9D moderate Altered Expression [27]
MTTP TTUS1RD moderate Biomarker [28]
PDCD2 TTYOVWN moderate Altered Expression [29]
PDE3B TTN34SQ moderate Altered Expression [30]
PRCP TTTJZ4M moderate Biomarker [31]
SLCO1B3 TTU86P0 moderate Biomarker [32]
SSTR1 TTIND6G moderate Biomarker [33]
TEC TT1ZV49 moderate Genetic Variation [34]
TIE1 TTT4236 moderate Altered Expression [35]
TIGIT TTWNL74 moderate Altered Expression [36]
TPBG TT70MLA moderate Genetic Variation [37]
ABL1 TT6B75U Strong Biomarker [28]
AURKA TTPS3C0 Strong Biomarker [38]
BRAF TT0EOB8 Strong Biomarker [39]
CCND3 TT1JXNR Strong Altered Expression [40]
CD3E TTZAT79 Strong Biomarker [41]
DMD TTWLFXU Strong Genetic Variation [42]
DYRK2 TT84OS6 Strong Biomarker [41]
EZR TTE47YC Strong Altered Expression [43]
FGF4 TTCEKVZ Strong Altered Expression [44]
FLT3 TTGJCWZ Strong Biomarker [45]
FSCN1 TTTRS9B Strong Biomarker [46]
GLI1 TTJOMH6 Strong Biomarker [41]
GLI2 TT045OH Strong Biomarker [41]
GLP2R TT1YWO5 Strong Altered Expression [47]
HHAT TT1VNCG Strong Biomarker [41]
HIPK2 TTOB49C Strong Biomarker [41]
HSP90AA1 TT78R5H Strong Biomarker [12]
KITLG TTDJ51N Strong Altered Expression [48]
MS4A1 TTUE541 Strong Biomarker [49]
NES TTHZ752 Strong Biomarker [50]
NTRK3 TTXABCW Strong Biomarker [51]
PDE11A TTTWC79 Strong Genetic Variation [52]
PDE3A TT06AWU Strong Biomarker [53]
PDGFRB TTI7421 Strong Biomarker [54]
PEBP1 TT1BGU8 Strong Altered Expression [55]
PRKCA TTFJ8Q1 Strong Biomarker [56]
PRKCB TTYPXQF Strong Biomarker [56]
PRKCQ TT1MS7X Strong Biomarker [57]
SMO TT8J1S3 Strong Biomarker [41]
STK36 TTX5KEQ Strong Biomarker [41]
TGFBR2 TTZE3P7 Strong Biomarker [41]
TK1 TTP3QRF Strong Genetic Variation [58]
TKTL1 TTNQ1J3 Strong Genetic Variation [58]
KIT TTX41N9 Definitive Autosomal dominant [59]
PDGFRA TT8FYO9 Definitive Autosomal dominant [59]
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⏷ Show the Full List of 62 DTT(s)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC16A7 DTLT3UG moderate Altered Expression [60]
SLC22A4 DT2EG60 Strong Genetic Variation [61]
SLC22A5 DT3HUVD Strong Genetic Variation [61]
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This Disease Is Related to 3 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP2C8 DES5XRU moderate Genetic Variation [62]
PGPEP1 DEVDR46 moderate Biomarker [31]
WARS1 DEPVE0M moderate Biomarker [63]
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This Disease Is Related to 114 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CCDC6 OTXRQDYG Limited Altered Expression [64]
INTS13 OTWE6180 Limited Biomarker [65]
MGA OTTLB216 Limited Genetic Variation [66]
OBSCN OTT14OVX Limited Altered Expression [67]
PRUNE2 OTGW2974 Limited Altered Expression [67]
TRIM63 OTUSWA74 Limited Altered Expression [64]
SDHA OTOJ8QFF Supportive Autosomal dominant [68]
ADIPOR2 OT2HDTL8 moderate Altered Expression [69]
ALDH7A1 OTV57BZD moderate Biomarker [30]
AMPD3 OT5SP1KJ moderate Biomarker [70]
AMPH OTWPGWZX moderate Biomarker [71]
ANGPT4 OT881M3K moderate Altered Expression [35]
APBA1 OTUH9JPD moderate Posttranslational Modification [72]
APBA2 OTXD8ID1 moderate Posttranslational Modification [72]
BAG6 OT4Z0S2U moderate Altered Expression [73]
BTC OTW4B2O0 moderate Biomarker [74]
CA10 OTC3N1F6 moderate Altered Expression [75]
CA11 OT8RX3AJ moderate Biomarker [75]
CA8 OT9Y8GA8 moderate Biomarker [75]
CALD1 OTNJKJ6Q moderate Biomarker [76]
CCBE1 OTO4UIDB moderate Biomarker [77]
CCNH OTKDU3SR moderate Altered Expression [78]
CIC OTFXCHNZ moderate Altered Expression [79]
CLEC11A OT9KBH7C moderate Altered Expression [80]
COL22A1 OTSWGZRD moderate Altered Expression [81]
COPA OTZ1DTXU moderate Altered Expression [82]
CRTAP OT53H5U6 moderate Genetic Variation [18]
CYTIP OTRJ3ZC5 moderate Genetic Variation [18]
DAAM1 OT0VHIYZ moderate Biomarker [83]
DACT1 OT19Z704 moderate Altered Expression [83]
DCTN6 OTI8PIN9 moderate Altered Expression [84]
DEPDC5 OTE70JLY moderate Biomarker [85]
DIAPH1 OTZBYPLH moderate Biomarker [86]
ETV4 OT8C98UZ moderate Altered Expression [87]
FIP1L1 OTF91GTL moderate Genetic Variation [88]
FXYD5 OT81DIOD moderate Biomarker [89]
HAND1 OTN4IPVV moderate Altered Expression [90]
KCNIP3 OTCQPEM4 moderate Biomarker [91]
KCNRG OTXHYFOD moderate Biomarker [92]
KCTD10 OT5HFZXU moderate Altered Expression [93]
KIRREL1 OTOA7ON7 moderate Biomarker [94]
KIRREL3 OTW7PENS moderate Biomarker [94]
MAPK8IP2 OTDUHLN0 moderate Biomarker [86]
NCOR1 OT04XNOU moderate Altered Expression [29]
NFKBIB OTY1ZJXH moderate Biomarker [95]
PCDH10 OT2GIT0E moderate Biomarker [96]
PIK3C2A OTFBU4GD moderate Biomarker [97]
PLCB4 OTPA0QHW moderate Altered Expression [98]
POU2AF1 OTOO6WHL moderate Biomarker [99]
PPP2R1A OTYA3GB4 moderate Genetic Variation [100]
PRKAR1B OT777OHS moderate Biomarker [101]
RAB27B OTPF9D0K moderate Altered Expression [102]
RBPMS2 OTY24L1F moderate Biomarker [103]
RITA1 OTUH8IPS moderate Biomarker [104]
RTN1 OTCX1SMK moderate Biomarker [83]
SH3BP2 OT90JNBS moderate Altered Expression [105]
SLFN12 OTTBXM25 moderate Biomarker [106]
SLITRK3 OT018P93 moderate Altered Expression [107]
SPARCL1 OT74DWMV moderate Altered Expression [108]
SPRY4 OT2VK9N0 moderate Biomarker [37]
TLX2 OTPFAUM8 moderate Genetic Variation [109]
TNFAIP8L2 OTII0RM0 moderate Biomarker [110]
AIP OTDJ3OSV Strong Genetic Variation [52]
ARNT OTMSIEZY Strong Biomarker [111]
B9D1 OTWTXO75 Strong Biomarker [41]
BOC OTXBCY9W Strong Biomarker [41]
C2CD3 OTC52E7V Strong Biomarker [41]
CC2D2A OTFGRGFR Strong Biomarker [41]
CDON OT81X593 Strong Biomarker [41]
CIAO2A OTYPPL5X Strong Biomarker [112]
CMAS OTFQJG3C Strong Genetic Variation [113]
CTHRC1 OTV88X2G Strong Biomarker [114]
CTNNA1 OTFC725Z Strong Biomarker [41]
DES OTI09KBW Strong Genetic Variation [115]
DISP1 OTLDFZSY Strong Biomarker [41]
DKK4 OTWCCVF6 Strong Biomarker [116]
ELP4 OTP5GZ9V Strong Biomarker [41]
FOXF1 OT2CJZ5K Strong Altered Expression [117]
FOXL2 OTFRQUYL Strong Altered Expression [118]
GLI3 OTKDOE94 Strong Biomarker [41]
GLIS2 OTOUUV1X Strong Biomarker [41]
H3C1 OTGBGOZW Strong Altered Expression [118]
HHIP OT77RQYS Strong Biomarker [41]
HIPK1 OTSEA8RS Strong Biomarker [41]
IFT172 OT12DW08 Strong Biomarker [41]
IFT52 OTFIVV9A Strong Biomarker [41]
IFT88 OTDR3VBD Strong Biomarker [41]
IHH OT1DWGXC Strong Biomarker [41]
KCTD12 OTPYKT4Z Strong Altered Expression [119]
KDM4D OTN6KAE6 Strong Biomarker [111]
KIF3A OTMUBSSK Strong Biomarker [41]
MAX OTKZ0YKM Strong Genetic Variation [120]
NCR3 OT20M764 Strong Altered Expression [73]
NDST1 OT9E10W2 Strong Biomarker [41]
NME7 OTYMBK3Q Strong Biomarker [41]
NPC1 OTRIPICX Strong Biomarker [41]
PDE8B OT4217NK Strong Genetic Variation [52]
PRRT2 OTCJUBDO Strong Biomarker [56]
PSMD9 OT6Y5CC3 Strong Altered Expression [84]
PTCH1 OTMG07H5 Strong Biomarker [41]
PTCH2 OTOQ0K9V Strong Biomarker [41]
PTPN18 OT0S09B3 Strong Biomarker [121]
RAB23 OTBAKFBR Strong Biomarker [41]
RB1 OT9VMY7B Strong Biomarker [41]
RPL24 OTCY9DEB Strong Biomarker [41]
SALL3 OTJ2LZKQ Strong Biomarker [41]
SDHC OTC8G2MX Strong Autosomal dominant [122]
SUFU OT0IRYG1 Strong Biomarker [41]
TK2 OTS1V4XB Strong Genetic Variation [58]
TMEM17 OTEU00OH Strong Biomarker [41]
TMEM231 OTF4UYIE Strong Biomarker [41]
KIT OTHUY3VZ Definitive Autosomal dominant [59]
PDGFRA OTDJXUCN Definitive Autosomal dominant [59]
SDHB OTRE1M1T Definitive Autosomal dominant [123]
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⏷ Show the Full List of 114 DOT(s)

References

1 Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health Human Services. 2020
2 Imatinib FDA Label
3 Regorafenib FDA Label
4 Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health Human Services. 2020
5 The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
6 ClinicalTrials.gov (NCT05208047) A Phase 3 Randomized, Open-Label, Multicenter Clinical Study of CGT9486+Sunitinib vs. Sunitinib in Subjects With Locally Advanced, Unresectable, or Metastatic Gastrointestinal Stromal Tumors. U.S.National Institutes of Health.
7 Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
8 ClinicalTrials.gov (NCT00574236) Phase II Trial of Bortezomib and Doxorubicin in Metastatic Breast Cancer. U.S. National Institutes of Health.
9 ClinicalTrials.gov (NCT02401815) CGT9486 (Formerly Known as PLX9486) as a Single Agent and in Combination With PLX3397 (Pexidartinib) or Sunitinib in Participants With Advanced Solid Tumors. U.S. National Institutes of Health.
10 Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
11 ClinicalTrials.gov (NCT04276415) DS-6157a in Participants With Advanced Gastrointestinal Stromal Tumor (GIST). U.S. National Institutes of Health.
12 Coordinated targeting of CK2 and KIT in gastrointestinal stromal tumours.Br J Cancer. 2020 Feb;122(3):372-381. doi: 10.1038/s41416-019-0657-5. Epub 2019 Nov 28.
13 Glucose-dependent insulinotropic polypeptide receptors in most gastroenteropancreatic and bronchial neuroendocrine tumors.J Clin Endocrinol Metab. 2012 Feb;97(2):482-8. doi: 10.1210/jc.2011-2454. Epub 2011 Nov 23.
14 Gastrointestinal stromal tumors (GISTs) and second malignancies: A novel "sentinel tumor"? A monoinstitutional, STROBE-compliant observational analysis.Medicine (Baltimore). 2016 Sep;95(38):e4718. doi: 10.1097/MD.0000000000004718.
15 Multiple conformational states of the HPK1 kinase domain in complex with sunitinib reveal the structural changes accompanying HPK1 trans-regulation.J Biol Chem. 2019 Jun 7;294(23):9029-9036. doi: 10.1074/jbc.AC119.007466. Epub 2019 Apr 24.
16 Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumor With SDHC Germline Mutation and Bilateral Renal and Neck Cysts.Pediatr Dev Pathol. 2019 May-Jun;22(3):265-268. doi: 10.1177/1093526618805354. Epub 2018 Oct 9.
17 Activated tyrosine kinases in gastrointestinal stromal tumor with loss of KIT oncoprotein expression.Cell Cycle. 2018;17(23):2577-2592. doi: 10.1080/15384101.2018.1553335. Epub 2018 Dec 4.
18 Mutational analysis of CASP1, 2, 3, 4, 5, 6, 7, 8, 9, 10, and 14 genes in gastrointestinal stromal tumors.Hum Pathol. 2009 Jun;40(6):868-71. doi: 10.1016/j.humpath.2008.11.013. Epub 2009 Mar 9.
19 Promoting role of cholecystokinin 2 receptor (CCK2R) in gastrointestinal stromal tumour pathogenesis.J Pathol. 2012 Dec;228(4):565-74. doi: 10.1002/path.4071. Epub 2012 Sep 28.
20 Predicting Malignancy Risk in Gastrointestinal Subepithelial Tumors with Contrast-Enhanced Harmonic Endoscopic Ultrasonography Using Perfusion Analysis Software.Gut Liver. 2019 Mar 15;13(2):161-168. doi: 10.5009/gnl18185.
21 KIT-Dependent and KIT-Independent Genomic Heterogeneity of Resistance in Gastrointestinal Stromal Tumors - TORC1/2 Inhibition as Salvage Strategy.Mol Cancer Ther. 2019 Nov;18(11):1985-1996. doi: 10.1158/1535-7163.MCT-18-1224. Epub 2019 Jul 15.
22 Insulin-like growth factor (IGF) 1 and 2 help to predict disease outcome in GIST patients.Ann Oncol. 2008 Jul;19(7):1293-1298. doi: 10.1093/annonc/mdn040. Epub 2008 Mar 27.
23 MicroRNA involvement in gastrointestinal stromal tumor tumorigenesis.Curr Pharm Des. 2013;19(7):1227-35. doi: 10.2174/138161213804805748.
24 68Ga-Prostate-Specific Membrane Antigen Uptake in Gastrointestinal Stromal Tumor.Clin Nucl Med. 2018 Jan;43(1):60-61. doi: 10.1097/RLU.0000000000001902.
25 Heat shock protein 90 overexpression independently predicts inferior disease-free survival with differential expression of the alpha and beta isoforms in gastrointestinal stromal tumors.Clin Cancer Res. 2008 Dec 1;14(23):7822-31. doi: 10.1158/1078-0432.CCR-08-1369.
26 Management of localized gastrointestinal stromal tumors and adjuvant therapy with imatinib.Anticancer Drugs. 2012 Jun;23 Suppl:S3-6. doi: 10.1097/CAD.0b013e3283559fab.
27 MAPKAP kinase 2 overexpression influences prognosis in gastrointestinal stromal tumors and associates with copy number variations on chromosome 1 and expression of p38 MAP kinase and ETV1.Clin Cancer Res. 2012 Apr 1;18(7):1879-87. doi: 10.1158/1078-0432.CCR-11-2364. Epub 2012 Feb 20.
28 Opposing roles of KIT and ABL1 in the therapeutic response of gastrointestinal stromal tumor (GIST) cells to imatinib mesylate.Oncotarget. 2017 Jan 17;8(3):4471-4483. doi: 10.18632/oncotarget.13882.
29 PDCD2 and NCoR1 as putative tumor suppressors in gastric gastrointestinal stromal tumors.Cell Oncol (Dordr). 2016 Apr;39(2):129-37. doi: 10.1007/s13402-015-0258-0. Epub 2015 Nov 20.
30 Anagrelide for Gastrointestinal Stromal Tumor.Clin Cancer Res. 2019 Mar 1;25(5):1676-1687. doi: 10.1158/1078-0432.CCR-18-0815. Epub 2018 Dec 7.
31 CTHRC1 acts as a prognostic factor and promotes invasiveness of gastrointestinal stromal tumors by activating Wnt/PCP-Rho signaling.Neoplasia. 2014 Mar;16(3):265-78, 278.e1-13. doi: 10.1016/j.neo.2014.03.001. Epub 2014 Apr 13.
32 Genetic polymorphisms in angiogenesis-related genes are associated with worse progression-free survival of patients with advanced gastrointestinal stromal tumours treated with imatinib.Eur J Cancer. 2017 Nov;86:226-232. doi: 10.1016/j.ejca.2017.09.025. Epub 2017 Oct 18.
33 Gastrointestinal stromal tumors (GISTs) express somatostatin receptors and bind radiolabeled somatostatin analogs.Acta Oncol. 2013 May;52(4):783-92. doi: 10.3109/0284186X.2012.733075. Epub 2012 Nov 1.
34 Phase I Study of Rapid Alternation of Sunitinib and Regorafenib for the Treatment of Tyrosine Kinase Inhibitor Refractory Gastrointestinal Stromal Tumors.Clin Cancer Res. 2019 Dec 15;25(24):7287-7293. doi: 10.1158/1078-0432.CCR-19-2150. Epub 2019 Aug 30.
35 Expression of angiopoietin-1, 2 and 4 and Tie-1 and 2 in gastrointestinal stromal tumor, leiomyoma and schwannoma.World J Gastroenterol. 2007 Sep 7;13(33):4473-9. doi: 10.3748/wjg.v13.i33.4473.
36 Association between the exposure to anti-angiogenic agents and tumour immune microenvironment in advanced gastrointestinal stromal tumours.Br J Cancer. 2019 Nov;121(10):819-826. doi: 10.1038/s41416-019-0596-1. Epub 2019 Oct 14.
37 Kit K641E oncogene up-regulates Sprouty homolog 4 and trophoblast glycoprotein in interstitial cells of Cajal in a murine model of gastrointestinal stromal tumours.J Cell Mol Med. 2009 Aug;13(8A):1536-48. doi: 10.1111/j.1582-4934.2009.00768.x. Epub 2009 May 19.
38 Role of PLK1 signaling pathway genes in gastrointestinal stromal tumors.Oncol Lett. 2018 Sep;16(3):3070-3082. doi: 10.3892/ol.2018.9003. Epub 2018 Jun 21.
39 KIT as an Oncogenic Driver in Melanoma: An Update on Clinical Development.Am J Clin Dermatol. 2019 Jun;20(3):315-323. doi: 10.1007/s40257-018-0414-1.
40 Increased cyclin D3 expression significantly correlates with p27 nuclear positivity in gastrointestinal stromal tumors.Hum Pathol. 2008 Dec;39(12):1784-91. doi: 10.1016/j.humpath.2008.05.007. Epub 2008 Aug 12.
41 Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. Oncotarget. 2016 Nov 29;7(48):78226-78241. doi: 10.18632/oncotarget.12909.
42 Recurrent DMD Deletions Highlight Specific Role of Dp71 Isoform in Soft-Tissue Sarcomas.Cancers (Basel). 2019 Jul 1;11(7):922. doi: 10.3390/cancers11070922.
43 Phosphorylated T567 ezrin is associated with merlin expression in KIT-mutant gastrointestinal stromal tumors.Mol Med Rep. 2012 Jan;5(1):17-21. doi: 10.3892/mmr.2011.609. Epub 2011 Oct 3.
44 Gain of FGF4 is a frequent event in KIT/PDGFRA/SDH/RAS-P WT GIST.Genes Chromosomes Cancer. 2019 Sep;58(9):636-642. doi: 10.1002/gcc.22753. Epub 2019 Apr 16.
45 A Phase I Study of Binimetinib (MEK162) Combined with Pexidartinib (PLX3397) in Patients with Advanced Gastrointestinal Stromal Tumor.Oncologist. 2019 Oct;24(10):1309-e983. doi: 10.1634/theoncologist.2019-0418. Epub 2019 Jun 18.
46 Fascin-1 overexpression and miR-133b downregulation in the progression of gastrointestinal stromal tumor.Mod Pathol. 2013 Apr;26(4):563-71. doi: 10.1038/modpathol.2012.198. Epub 2012 Nov 30.
47 GLP-2 receptors in human disease: high expression in gastrointestinal stromal tumors and Crohn's disease.Mol Cell Endocrinol. 2012 Nov 25;364(1-2):46-53. doi: 10.1016/j.mce.2012.08.008. Epub 2012 Aug 19.
48 Insights into ligand stimulation effects on gastro-intestinal stromal tumors signalling.Cell Signal. 2017 Jan;29:138-149. doi: 10.1016/j.cellsig.2016.10.009. Epub 2016 Oct 21.
49 Immune cells in primary gastrointestinal stromal tumors.Eur J Gastroenterol Hepatol. 2008 Apr;20(4):327-34. doi: 10.1097/MEG.0b013e3282f3a403.
50 Expression profiles of stemness genes in gastrointestinal stromal tumor.Hum Pathol. 2018 Jun;76:76-84. doi: 10.1016/j.humpath.2018.02.015. Epub 2018 Feb 25.
51 The histologic spectrum of soft tissue spindle cell tumors with NTRK3 gene rearrangements.Genes Chromosomes Cancer. 2019 Nov;58(11):739-746. doi: 10.1002/gcc.22767. Epub 2019 Jun 4.
52 Multiple endocrine neoplasias: advances and challenges for the future.J Intern Med. 2009 Jul;266(1):1-4. doi: 10.1111/j.1365-2796.2009.02108.x.
53 Potentiation of imatinib by cilostazol in sensitive and resistant gastrointestinal stromal tumor cell lines involves YAP inhibition.Oncotarget. 2019 Mar 5;10(19):1798-1811. doi: 10.18632/oncotarget.26734. eCollection 2019 Mar 5.
54 Genomic Subtypes of GISTs for Stratifying Patient Response to Sunitinib following Imatinib Resistance: A Pooled Analysis and Systematic Review.Dis Markers. 2018 Aug 26;2018:1368617. doi: 10.1155/2018/1368617. eCollection 2018.
55 Downregulation of phosphatidylethanolamine binding protein 1 associates with clinical risk factors in gastrointestinal stromal tumors, but not with activation of the RAF-1-MEK-ETV1 pathway.Cancer Lett. 2013 Jul 10;335(1):26-30. doi: 10.1016/j.canlet.2013.01.044. Epub 2013 Jan 31.
56 Sustained Mutant KIT Activation in the Golgi Complex Is Mediated by PKC- in Gastrointestinal Stromal Tumors.Clin Cancer Res. 2017 Feb 1;23(3):845-856. doi: 10.1158/1078-0432.CCR-16-0521. Epub 2016 Jul 20.
57 Diagnostic significance of DOG-1 and PKC- expression and c-Kit/PDGFRA mutations in gastrointestinal stromal tumours.Scand J Gastroenterol. 2013 Sep;48(9):1055-65. doi: 10.3109/00365521.2013.816770. Epub 2013 Jul 17.
58 Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene.Gastroenterology. 2002 May;122(5):1493-9. doi: 10.1053/gast.2002.33024.
59 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
60 Co-expression of monocarboxylate transporter 1 (MCT1) and its chaperone (CD147) is associated with low survival in patients with gastrointestinal stromal tumors (GISTs).J Bioenerg Biomembr. 2012 Feb;44(1):171-8. doi: 10.1007/s10863-012-9408-5. Epub 2012 Jan 27.
61 Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy. Pharmacol Res. 2013 Feb;68(1):1-6.
62 Influence of CYP2C8 polymorphisms on imatinib steady-state trough level in chronic myeloid leukemia and gastrointestinal stromal tumor patients.Pharmacogenet Genomics. 2017 Jun;27(6):223-226. doi: 10.1097/FPC.0000000000000278.
63 Role of immune microenvironment in gastrointestinal stromal tumours.Histopathology. 2018 Feb;72(3):405-413. doi: 10.1111/his.13382. Epub 2017 Nov 21.
64 A systems biological approach to identify key transcription factors and their genomic neighborhoods in human sarcomas.Chin J Cancer. 2011 Jan;30(1):27-40. doi: 10.5732/cjc.010.10541.
65 Management and outcomes of ruptured, perforated or fistulized tumors of mesenchymal origin.J Surg Oncol. 2020 Mar;121(3):474-479. doi: 10.1002/jso.25807. Epub 2019 Dec 17.
66 Genetic alterations in cell cycle regulation-associated genes may promote primary progression of gastrointestinal stromal tumors.Lab Invest. 2020 Mar;100(3):426-437. doi: 10.1038/s41374-019-0322-x. Epub 2019 Sep 30.
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77 CCBE1 promotes GIST development through enhancing angiogenesis and mediating resistance to imatinib.Sci Rep. 2016 Aug 10;6:31071. doi: 10.1038/srep31071.
78 Cyclin H expression is increased in GIST with very-high risk of malignancy.BMC Cancer. 2010 Jul 2;10:350. doi: 10.1186/1471-2407-10-350.
79 Downregulation of CIC does not associate with overexpression of ETV1 or MAP kinase pathway activation in gastrointestinal stromal tumors.Cancer Invest. 2014 Aug;32(7):363-7. doi: 10.3109/07357907.2014.919304. Epub 2014 Jun 4.
80 Proteomic detection of a large amount of SCGF in the stroma of GISTs after imatinib therapy.J Transl Med. 2011 Sep 23;9:158. doi: 10.1186/1479-5876-9-158.
81 Integrated genomic study of quadruple-WT GIST (KIT/PDGFRA/SDH/RAS pathway wild-type GIST).BMC Cancer. 2014 Sep 20;14:685. doi: 10.1186/1471-2407-14-685.
82 Oncogenic Kit signalling on the Golgi is suppressed by blocking secretory trafficking with M-COPA in gastrointestinal stromal tumours.Cancer Lett. 2018 Feb 28;415:1-10. doi: 10.1016/j.canlet.2017.11.032. Epub 2017 Nov 28.
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85 Mutational inactivation of mTORC1 repressor gene DEPDC5 in human gastrointestinal stromal tumors.Proc Natl Acad Sci U S A. 2019 Nov 5;116(45):22746-22753. doi: 10.1073/pnas.1914542116. Epub 2019 Oct 21.
86 Novel clinically relevant genes in gastrointestinal stromal tumors identified by exome sequencing.Clin Cancer Res. 2013 Oct 1;19(19):5329-39. doi: 10.1158/1078-0432.CCR-12-3863. Epub 2013 Aug 13.
87 ETV4 collaborates with Wnt/-catenin signaling to alter cell cycle activity and promote tumor aggressiveness in gastrointestinal stromal tumor.Oncotarget. 2017 Dec 11;8(69):114195-114209. doi: 10.18632/oncotarget.23173. eCollection 2017 Dec 26.
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91 The DREAM complex mediates GIST cell quiescence and is a novel therapeutic target to enhance imatinib-induced apoptosis.Cancer Res. 2013 Aug 15;73(16):5120-9. doi: 10.1158/0008-5472.CAN-13-0579. Epub 2013 Jun 20.
92 Aberrations of chromosome 13q in gastrointestinal stromal tumors: analysis of 91 cases by fluorescence in situ hybridization (FISH).Diagn Mol Pathol. 2009 Jun;18(2):72-80. doi: 10.1097/PDM.0b013e318181fa1f.
93 Gene expression network analysis of ETV1 reveals KCTD10 as a novel prognostic biomarker in gastrointestinal stromal tumor.PLoS One. 2013 Aug 19;8(8):e73896. doi: 10.1371/journal.pone.0073896. eCollection 2013.
94 Gene expression of the IGF pathway family distinguishes subsets of gastrointestinal stromal tumors wild type for KIT and PDGFRA.Cancer Med. 2013 Feb;2(1):21-31. doi: 10.1002/cam4.57. Epub 2013 Feb 3.
95 Nuclear KIT induces a NFKBIB-RELA-KIT autoregulatory loop in imatinib-resistant gastrointestinal stromal tumors.Oncogene. 2019 Sep;38(38):6550-6565. doi: 10.1038/s41388-019-0900-9. Epub 2019 Jul 30.
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98 PLCB4 copy gain and PLC4 overexpression in primary gastrointestinal stromal tumors: Integrative characterization of a lipid-catabolizing enzyme associated with worse disease-free survival.Oncotarget. 2017 Mar 21;8(12):19997-20010. doi: 10.18632/oncotarget.15306.
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102 Prognostic value of Rab27B nuclear expression in gastrointestinal stromal tumors.Dis Markers. 2014;2014:942181. doi: 10.1155/2014/942181. Epub 2014 Oct 14.
103 High expression of the RNA-binding protein RBPMS2 in gastrointestinal stromal tumors.Exp Mol Pathol. 2013 Apr;94(2):314-21. doi: 10.1016/j.yexmp.2012.12.004. Epub 2013 Jan 4.
104 p53 modulation as a therapeutic strategy in gastrointestinal stromal tumors.PLoS One. 2012;7(5):e37776. doi: 10.1371/journal.pone.0037776. Epub 2012 May 25.
105 Silencing of adaptor protein SH3BP2 reduces KIT/PDGFRA receptors expression and impairs gastrointestinal stromal tumors growth.Mol Oncol. 2018 Aug;12(8):1383-1397. doi: 10.1002/1878-0261.12332. Epub 2018 Jun 30.
106 Phosphodiesterase 3A: a new player in development of interstitial cells of Cajal and a prospective target in gastrointestinal stromal tumors (GIST).Oncotarget. 2017 Jun 20;8(25):41026-41043. doi: 10.18632/oncotarget.17010.
107 SLITRK3 expression correlation to gastrointestinal stromal tumor risk rating and prognosis.World J Gastroenterol. 2015 Jul 21;21(27):8398-407. doi: 10.3748/wjg.v21.i27.8398.
108 Secreted protein acidic and rich in cysteine-like 1 suppresses metastasis in gastric stromal tumors.BMC Gastroenterol. 2018 Jul 4;18(1):105. doi: 10.1186/s12876-018-0833-8.
109 Allelic loss of Hox11L1 gene locus predicts outcome of gastrointestinal stromal tumors.Oncol Rep. 2006 Oct;16(4):915-9.
110 TIPE2 acts as a biomarker for GIST risk category and suppresses the viability and invasiveness of GIST cells.Cell Biosci. 2018 Dec 5;8:62. doi: 10.1186/s13578-018-0261-z. eCollection 2018.
111 Correction to: Histone demethylase KDM4D promotes gastrointestinal stromal tumor progression through HIF1/VEGFA signalling.Mol Cancer. 2018 Sep 13;17(1):135. doi: 10.1186/s12943-018-0885-y.
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115 Gastrointestinal stromal tumors. A clinicopathological study.Saudi Med J. 2019 Feb;40(2):126-130. doi: 10.15537/smj.2019.2.23913.
116 Aberrant accumulation of Dickkopf 4 promotes tumor progression via forming the immune suppressive microenvironment in gastrointestinal stromal tumor.Cancer Med. 2019 Sep;8(11):5352-5366. doi: 10.1002/cam4.2437. Epub 2019 Jul 29.
117 What's the FOX Got to Do with the KITten? Regulating the Lineage-Specific Transcriptional Landscape in GIST.Cancer Discov. 2018 Feb;8(2):146-149. doi: 10.1158/2159-8290.CD-17-1370.
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