胃肠道间质瘤突变分析的临床意义
Clinical implications of mutational analysis in gastrointestinal stromal tumours.
作者信息
Hoeben A, Schöffski P, Debiec-Rychter M
机构信息
Department of General Medical Oncology and Laboratory of Experimental Oncology, University Hospitals Leuven, Leuven Cancer Institute, Catholic University of Leuven, Leuven, Belgium.
出版信息
Br J Cancer. 2008 Feb 26;98(4):684-8. doi: 10.1038/sj.bjc.6604217. Epub 2008 Feb 5.
Abstract
The management of localised and advanced gastrointestinal stromal tumours (GISTs) in terms of histological diagnosis, surgery, imaging, medical treatment and molecular biology has rapidly changed since introduction of imatinib mesylate for molecularly targeted therapy in 2000. In this minireview, we briefly summarise and discuss the current data relevant to the increasing role of molecular characterisation of GISTs in the diagnosis, risk assessment and effective targeted therapy.
摘要
自2000年引入甲磺酸伊马替尼进行分子靶向治疗以来，局部和晚期胃肠道间质瘤（GISTs）在组织学诊断、手术、影像学、药物治疗和分子生物学方面的管理发生了迅速变化。在这篇小型综述中，我们简要总结并讨论了与GISTs分子特征在诊断、风险评估和有效靶向治疗中日益重要的作用相关的当前数据。
相似文献
1
Clinical implications of mutational analysis in gastrointestinal stromal tumours.胃肠道间质瘤突变分析的临床意义
Br J Cancer. 2008 Feb 26;98(4):684-8. doi: 10.1038/sj.bjc.6604217. Epub 2008 Feb 5.
2
Implications of mutational analysis for the management of patients with gastrointestinal stromal tumors and the application of targeted therapies.基因突变分析对胃肠道间质瘤患者管理的意义和靶向治疗的应用。
Cancer Invest. 2010 Oct;28(8):839-48. doi: 10.3109/07357907.2010.494322.
3
Mutation analysis of gastrointestinal stromal tumors: increasing significance for risk assessment and effective targeted therapy.胃肠道间质瘤的突变分析：对风险评估和有效靶向治疗的意义日益凸显。
Virchows Arch. 2007 Oct;451(4):743-9. doi: 10.1007/s00428-007-0473-9. Epub 2007 Aug 14.
4
Exon 11 homozygous mutations and intron 10/exon 11 junction deletions in the KIT gene are associated with poor prognosis of patients with gastrointestinal stromal tumors.KIT 基因外显子 11 纯合突变和内含子 10/外显子 11 连接区缺失与胃肠道间质瘤患者的不良预后相关。
Cancer Med. 2020 Sep;9(18):6485-6496. doi: 10.1002/cam4.3212. Epub 2020 Jul 22.
5
[Not Available].[无可用内容]。
Tidsskr Nor Laegeforen. 2018 Oct 1;138(15). doi: 10.4045/tidsskr.18.0200. Print 2018 Oct 2.
6
Gastrointestinal stromal tumors - Summary of mutational status of the primary/secondary KIT/PDGFRA mutations, BRAF mutations and SDH defects.胃肠道间质瘤——原发/继发 KIT/PDGFRA 突变、BRAF 突变和 SDH 缺陷的突变状态总结。
Pathol Res Pract. 2019 Dec;215(12):152708. doi: 10.1016/j.prp.2019.152708. Epub 2019 Oct 29.
7
V600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours.V600E BRAF突变是KIT/PDGFRA野生型胃肠道间质瘤亚组中的替代性早期分子事件。
J Clin Pathol. 2009 Jul;62(7):613-6. doi: 10.1136/jcp.2009.064550.
8
Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours.致癌性KIT和PDGFRA突变在胃肠道间质瘤中的临床意义
Histopathology. 2008 Sep;53(3):245-66. doi: 10.1111/j.1365-2559.2008.02977.x. Epub 2008 Feb 28.
9
PDGFRalpha- and c-kit-mutated gastrointestinal stromal tumours (GISTs) are characterized by distinctive histological and immunohistochemical features.血小板衍生生长因子受体α（PDGFRα）和c-kit突变的胃肠道间质瘤（GISTs）具有独特的组织学和免疫组化特征。
Histopathology. 2005 Feb;46(2):166-75. doi: 10.1111/j.1365-2559.2005.02061.x.
引用本文的文献
1
Phase II Study of Sunitinib in Tumors With Mutations: Results From the NCI MATCH ECOG-ACRIN Trial (EAY131) Subprotocol V.舒尼替尼在有突变肿瘤中的II期研究：美国国立癌症研究所MATCH ECOG-ACRIN试验（EAY131）子方案V的结果
JCO Precis Oncol. 2024 Dec;8:e2400514. doi: 10.1200/PO-24-00514. Epub 2024 Dec 12.
2
Potential indicators predict progress after surgical resection of gastrointestinal stromal tumors.潜在指标可预测胃肠道间质瘤手术后的进展情况。
Front Med. 2012 Sep;6(3):317-21. doi: 10.1007/s11684-012-0203-9. Epub 2012 Jul 14.
3
Cyclin H expression is increased in GIST with very-high risk of malignancy.Cyclin H 在恶性程度极高的 GIST 中表达增加。
BMC Cancer. 2010 Jul 2;10:350. doi: 10.1186/1471-2407-10-350.
4
Solution structures of all parallel-stranded monomeric and dimeric G-quadruplex scaffolds of the human c-kit2 promoter.人源 c-kit2 启动子所有平行股单链和双链 G-四链体支架的溶液结构。
Nucleic Acids Res. 2010 Oct;38(19):6757-73. doi: 10.1093/nar/gkq558. Epub 2010 Jun 21.
5
Optimal use of targeted agents for advanced gastrointestinal stromal tumours.晚期胃肠道间质瘤靶向药物的最佳应用。
Oncology. 2010;78(2):130-40. doi: 10.1159/000312655. Epub 2010 Apr 13.
6
Evaluation of self-reported progression and correlation of imatinib dose to survival in patients with metastatic gastrointestinal stromal tumors: an open cohort study.转移性胃肠道间质瘤患者自我报告的病情进展评估及伊马替尼剂量与生存的相关性：一项开放性队列研究。
J Gastrointest Cancer. 2010 Mar;41(1):60-70. doi: 10.1007/s12029-009-9111-x.
7
A G-rich sequence within the c-kit oncogene promoter forms a parallel G-quadruplex having asymmetric G-tetrad dynamics.c-kit 癌基因启动子内的富含 G 序列形成具有不对称 G-四联体动力学的平行 G-四链体。
J Am Chem Soc. 2009 Sep 23;131(37):13399-409. doi: 10.1021/ja904007p.
8
The benefits of molecular pathology in the diagnosis of musculoskeletal disease : part I of a two-part review: soft tissue tumors.分子病理学在肌肉骨骼疾病诊断中的应用优势：两部分综述的第一部分：软组织肿瘤。
Skeletal Radiol. 2010 Feb;39(2):105-15. doi: 10.1007/s00256-009-0759-x.
9
Targeting human gastrointestinal stromal tumor cells with a quadruplex-binding small molecule.用一种四链体结合小分子靶向人类胃肠道间质瘤细胞。
J Med Chem. 2009 Jun 25;52(12):3774-83. doi: 10.1021/jm900424a.
10
The epidemiology and pathogenesis of neoplasia in the small intestine.小肠肿瘤的流行病学与发病机制。
Ann Epidemiol. 2009 Jan;19(1):58-69. doi: 10.1016/j.annepidem.2008.10.004.
本文引用的文献
1
Sorafenib inhibits the imatinib-resistant KITT670I gatekeeper mutation in gastrointestinal stromal tumor.索拉非尼抑制胃肠道间质瘤中对伊马替尼耐药的KITT670I守门基因突变。
Clin Cancer Res. 2007 Aug 15;13(16):4874-81. doi: 10.1158/1078-0432.CCR-07-0484.
2
Presence of homozygous KIT exon 11 mutations is strongly associated with malignant clinical behavior in gastrointestinal stromal tumors.纯合性KIT外显子11突变的存在与胃肠道间质瘤的恶性临床行为密切相关。
Lab Invest. 2007 Oct;87(10):1029-41. doi: 10.1038/labinvest.3700628. Epub 2007 Jul 16.
3
NCCN Task Force report: management of patients with gastrointestinal stromal tumor (GIST)--update of the NCCN clinical practice guidelines.美国国立综合癌症网络（NCCN）工作组报告：胃肠道间质瘤（GIST）患者的管理——NCCN临床实践指南更新
J Natl Compr Canc Netw. 2007 Jul;5 Suppl 2:S1-29; quiz S30.
4
Mutations in gastrointestinal stromal tumors--a population-based study from Northern Norway.胃肠道间质瘤中的突变——来自挪威北部的一项基于人群的研究。
APMIS. 2007 Apr;115(4):289-98. doi: 10.1111/j.1600-0463.2007.apm_587.x.
5
The role of KIT in the management of patients with gastrointestinal stromal tumors.KIT在胃肠道间质瘤患者管理中的作用。
Hum Pathol. 2007 May;38(5):679-87. doi: 10.1016/j.humpath.2007.03.001.
6
Beyond imatinib: second generation c-KIT inhibitors for the management of gastrointestinal stromal tumors.超越伊马替尼：用于治疗胃肠道间质瘤的第二代c-KIT抑制剂
Clin Colorectal Cancer. 2006 Nov;6 Suppl 1:S30-4. doi: 10.3816/ccc.2006.s.005.
7
Approval summary: sunitinib for the treatment of imatinib refractory or intolerant gastrointestinal stromal tumors and advanced renal cell carcinoma.批准摘要：舒尼替尼用于治疗对伊马替尼耐药或不耐受的胃肠道间质瘤和晚期肾细胞癌。
Clin Cancer Res. 2007 Mar 1;13(5):1367-73. doi: 10.1158/1078-0432.CCR-06-2328.
8
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation.侵袭性系统性肥大细胞增多症中发现的近膜型c-kit基因突变可诱导伊马替尼耐药的组成性KIT激活。
Lab Invest. 2007 Apr;87(4):365-71. doi: 10.1038/labinvest.3700524. Epub 2007 Jan 29.
9
Gastrointestinal stromal tumors: pathology and prognosis at different sites.胃肠道间质瘤：不同部位的病理学与预后
Semin Diagn Pathol. 2006 May;23(2):70-83. doi: 10.1053/j.semdp.2006.09.001.
10
Effects of PKC412, nilotinib, and imatinib against GIST-associated PDGFRA mutants with differential imatinib sensitivity.PKC412、尼罗替尼和伊马替尼对具有不同伊马替尼敏感性的胃肠道间质瘤相关血小板衍生生长因子受体α（PDGFRA）突变体的作用。
Gastroenterology. 2006 Dec;131(6):1734-42. doi: 10.1053/j.gastro.2006.09.017. Epub 2006 Sep 20.
Zotero 插件