野生型胃肠道间质瘤的研究进展

doi:10.11904/j.issn.1002-3070.2020.06.008

Abstract

Abstract: Gastrointestinal stromal tumor(GIST)is the most common tumor of archenteric mesenchymal tissue.About 10% of patients are diagnosed as GIST morphologically and immunohistochemically without KIT and PDGFRA gene mutations which is defined wild-type GIST.According to the absence of succinate dehydrogenase B(SDHB)expression,wild-type GIST can be divided into SDH-deficient and non-SDH-deficient types.SDH-deficient types include syndrome-free associated,Carney triad associated,and Carney-stratakis synthesis associated GIST;non-SDH-deficient types include BRAF mutations,type I neurofibromatosis-related,K/N-RAS mutations,and quadruple wild-type GIST.The occurrence,development,clinicopathological features and treatment principles of wild-type GIST are significantly different from those of KIT or PDGFRA mutant GIST.This article reviews the molecular mechanism and clinical progress of wild-type GIST.

Key words: Wild-type gastrointestinal stromal tumor, Succinate dehydrogenase(SDH), Diagnosis, Treatment

CLC Number:

735.2

BAI Yibing, YANG Jiani, FANG Lin, ZHANG Yanqiao. Research progress of wild-type gastrointestinal stromal tumors[J]. Journal of Practical Oncology, 2020, 34(6): 524-529.

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URL: http://journal09.magtechjournal.com/Jwk3_syzlxzz/EN/10.11904/j.issn.1002-3070.2020.06.008

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References

1 Corless CL,Barnett CM,Heinrich MC.Gastrointestinal stromal tumours:origin and molecular oncology[J].Nat Rev Cancer,2011,11(12):865-878.
2 Wang TN,Yao WM.Analysis of pathological characteristics,diagnosis and treatment of gastrointestinal stromal tumors[J].Practical Oncology Journal,2008,22(4):326-327.
3 Li J,Ye Y,Wang J,et al.Chinese consensus guidelines for diagnosis and management of gastrointestinal stromal tumor[J].Chin J Cancer Res,2017,29(4):281-293.
4 Wada R,Arai H,Kure S,et al.“Wild type”GIST:clinicopathological features and clinical practice[J].Pathol Int,2016,66(8):431-437.
5 Astolfi A,Nannini M,Pantaleo MA,et al.A molecular portrait of gastrointestinal stromal tumors:an integrative analysis of gene expression profiling and high-resolution genomic copy number[J].Lab Invest,2010,90(9):1285-1294.
6 Jasek K,Buzalkova V,Minarik G,et al.Detection of mutations in the BRAF gene in patients with KIT and PDGFRA wild-type gastrointestinal stromal tumors[J].Virchows Arch,2017,470(1):29-36.
7 Belinsky MG,Cai KQ,Zhou Y,et al.Succinate dehydrogenase deficiency in a PDGFRA mutated GIST[J].BMC Cancer,2017,17(1):512.
8 Bardella C,Pollard PJ,Tomlinson I.SDH mutations in cancer[J].Biochim Biophys Acta,2011,1807(11):1432-1443.
9 Belinsky MG,Rink L,von Mehren M.Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors[J].Front Oncol,2013,3:117.
10 Boikos SA,Pappo AS,Killian JK,et al.Molecular subtypes of KIT/PDGFRA wild-type gastrointestinal stromal tumors:a report from the national institutes of health gastrointestinal stromal tumor clinic[J].JAMA Oncology,2016,2(7):922-928.
11 Tarn C,Rink L,Merkel E,et al.Insulin-like growth factor 1 receptor is a potential therapeutic target for gastrointestinal stromal tumors[J].Proc Natl Acad Sci U S A,2008,105(24):8387-8392.
12 Nannini M,Astolfi A,Paterini P,et al.Expression of IGF-1 receptor in KIT/PDGF receptor-α wild-type gastrointestinal stromal tumors with succinate dehydrogenase complex dysfunction[J].Future oncology(London,England),2013,9(1):121-126.
13 Flavahan WA,Drier Y,Johnstone SE,et al.Altered chromosomal topology drives oncogenic programs in SDH-deficient GISTs[J].Nature,2019,575(7781):229-233.
14 Janeway KA,Kim SY,Lodish M,et al.Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations[J].Proc Natl Acad Sci U S A,2011,108(1):314-318.
15 Doyle LA,Nelson D,Heinrich MC,et al.Loss of succinate dehydrogenase subunit B(SDHB)expression is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumours:a comprehensive genotype-phenotype correlation study[J].Histopathology,2012,61(5):801-809.
16 Oudijk L,Gaal J,Korpershoek E,et al.SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors[J].Mod Pathol,2013,26(3):456-463.
17 Pantaleo MA,Astolfi A,Urbini M,et al.Analysis of all subunits,SDHA,SDHB,SDHC,SDHD,of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST[J].Eur J Hum Genet,2014,22(1):32-39.
18 Settas N,Faucz FR,Stratakis CA.Succinate dehydrogenase(SDH)deficiency,Carney triad and the epigenome[J].Mol Cell Endocrinol,2018,469:107-111.
19 Agaimy A,Terracciano LM,Dirnhofer S,et al.V600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours[J].J Clin Pathol,2009,62(7):613-616.
20 Daniels M,Lurkin I,Pauli R,et al.Spectrum of KIT/PDGFRA/BRAF mutations and Phosphatidylinositol-3-Kinase pathway gene alterations in gastrointestinal stromal tumors(GIST)[J].Cancer Lett,2011,312(1):43-54.
21 Franck C,Rosania R,Franke S,et al.The BRAF status may predict response to sorafenib in gastrointestinal stromal tumors resistant to imatinib,sunitinib,and regorafenib:case series and review of the literature[J].Digestion,2019,99(2):179-184.
22 Shang L,Fang Z,Liu J,et al.Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1(NF1)[J].BMC Cancer,2019,19(1):1196.
23 Miranda C,Nucifora M,Molinari F,et al.KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors[J].Clin Cancer Res,2012,18(6):1769-1776.
24 Lasota J,Xi L,Coates T,et al.No KRAS mutations found in gastrointestinal stromal tumors(GISTs):molecular genetic study of 514 cases[J].Mod Pathol,2013,26(11):1488-1491.
25 Nannini M,Astolfi A,Urbini M,et al.Integrated genomic study of quadruple-WT GIST(KIT/PDGFRA/SDH/RAS pathway wild-type GIST)[J].BMC Cancer,2014,14:685.
26 Brenca M,Rossi S,Polano M,et al.Transcriptome sequencing identifies ETV6-NTRK3 as a gene fusion involved in GIST[J].J Pathol,2016,238(4):543-549.
27 Shi E,Chmielecki J,Tang CM,et al.FGFR1 and NTRK3 actionable alterations in“Wild-Type”gastrointestinal stromal tumors[J].J Transl Med,2016,14(1):339.
28 Nannini M,Urbini M,Astolfi A,et al.The progressive fragmentation of the KIT/PDGFRA wild-type(WT)gastrointestinal stromal tumors(GIST)[J].J Transl Med,2017,15(1):113.
29 Pantaleo MA,Urbini M,Indio V,et al.Genome-wide analysis identifies MEN1 and MAX mutations and a neuroendocrine-like molecular heterogeneity in quadruple WT GIST[J].Molecular Cancer Research,2017,15(5):553-562.
30 Urbini M,Indio V,Tarantino G,et al.Gain of FGF4 is a frequent event in KIT/PDGFRA/SDH/RAS-P WT GIST[J].Genes Chromosomes Cancer,2019,58(9):636-642.
31 Weldon CB,Madenci AL,Boikos SA,et al.Surgical management of wild-type gastrointestinal stromal tumors:a report from the national institutes of health pediatric and wildtype GIST clinic[J].J Clin Oncol,2017,35(5):523-528.
32 Ben-Ami E,Barysauskas CM,von Mehren M,et al.Long-term follow-up results of the multicenter phase II trial of regorafenib in patients with metastatic and/or unresectable GI stromal tumor after failure of standard tyrosine kinase inhibitor therapy[J].Ann Oncol,2016,27(9):1794-1799.
33 Schroeder BA,Kohli K,O′Malley RB,et al.Durable tumor regression in highly refractory metastatic KIT/PDGFRA wild-type GIST following treatment with nivolumab[J].Oncoimmunology,2020,9(1):1710064.
34 Mir O,Cropet C,Toulmonde M,et al.Pazopanib plus best supportive care versus best supportive care alone in advanced gastrointestinal stromal tumours resistant to imatinib and sunitinib(PAZOGIST):a randomised,multicentre,open-label phase 2 trial[J].The Lancet Oncology,2016,17(5):632-641.
35 Falchook GS,Trent JC,Heinrich MC,et al.BRAF mutant gastrointestinal stromal tumor:first report of regression with BRAF inhibitor dabrafenib(GSK2118436)and whole exomic sequencing for analysis of acquired resistance[J].Oncotarget,2013,4(2):310-315.
36 von Mehren M,George S,Heinrich MC,et al.Linsitinib(OSI-906)for the treatment of adult and pediatric wild-type gastrointestinal stromal tumors,a SARC Phase II Study[J].Clin Cancer Res,2020,26(8):1837-1845.
37 Glod J,Arnaldez FI,Wiener L,et al.A phase II trial of vandetanib in children and adults with succinate dehydrogenase-deficient gastrointestinal stromal tumor[J].Clin Cancer Res,2019,25(21):6302-6308.
38 Liu F,Zou F,Chen C,Yu K,et al.Axitinib overcomes multiple imatinib resistant cKIT mutations including the gatekeeper mutation T670I in gastrointestinal stromal tumors[J].Ther Adv Med Oncol,2019,11:1758835919849757.

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Research progress of wild-type gastrointestinal stromal tumors

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