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胃肠道间质瘤:起源与分子肿瘤学。

Gastrointestinal stromal tumours: origin and molecular oncology.

机构信息

Knight Cancer Institute, Division of Haematology & Oncology, and Department of Pathology, Portland VA Medical Center and Oregon Health & Science University, Portland, OR 97239, USA.

出版信息

Nat Rev Cancer. 2011 Nov 17;11(12):865-78. doi: 10.1038/nrc3143.

DOI:10.1038/nrc3143
PMID:22089421
Abstract

Gastrointestinal stromal tumours (GISTs) are a paradigm for the development of personalized treatment for cancer patients. The nearly simultaneous discovery of a biomarker that is reflective of their origin and the presence of gain-of-function kinase mutations in these tumours set the stage for more accurate diagnosis and the development of kinase inhibitor therapy. Subsequent studies of genotype and phenotype have led to a molecular classification of GIST and to treatment optimization on the basis of molecular subtype. The study of drug-resistant tumours has advanced our understanding of kinase biology, enabling the development of novel kinase inhibitors. Further improvements in GIST treatment may require targeting GIST stem cell populations and/or additional genomic events.

摘要

胃肠道间质瘤(GISTs)是为癌症患者制定个性化治疗方案的典范。几乎同时发现了一种生物标志物,反映了它们的起源和这些肿瘤中获得功能激酶突变的存在,为更准确的诊断和激酶抑制剂治疗的发展奠定了基础。随后对基因型和表型的研究导致了 GIST 的分子分类,并根据分子亚型进行了治疗优化。耐药肿瘤的研究促进了我们对激酶生物学的理解,使新型激酶抑制剂的开发成为可能。进一步改善 GIST 的治疗可能需要针对 GIST 干细胞群和/或其他基因组事件。

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2
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本文引用的文献

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Frequency, phenotype, and genotype of minute gastrointestinal stromal tumors in the stomach: an autopsy study.胃微小胃肠间质瘤的频率、表型和基因型:一项尸检研究。
Hum Pathol. 2011 Dec;42(12):1849-54. doi: 10.1016/j.humpath.2011.01.024. Epub 2011 Jun 12.
2
SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.通过大规模平行测序鉴定出 KIT-PDGFRA 野生型胃肠道间质瘤中的 SDHA 功能丧失突变。
J Natl Cancer Inst. 2011 Jun 22;103(12):983-7. doi: 10.1093/jnci/djr130. Epub 2011 Apr 19.
3
The ABL switch control inhibitor DCC-2036 is active against the chronic myeloid leukemia mutant BCR-ABLT315I and exhibits a narrow resistance profile.
胃肠道间质瘤(GISTs)的最新进展,重点关注胃肠道外间质瘤(EGISTs)。
Gastroenterol Rep (Oxf). 2025 Jul 23;13:goaf068. doi: 10.1093/gastro/goaf068. eCollection 2025.
4
Overview of Molecular Diagnostics in Irish Clinical Oncology.爱尔兰临床肿瘤学中的分子诊断概述
HRB Open Res. 2025 Jun 9;7:16. doi: 10.12688/hrbopenres.13822.2. eCollection 2024.
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Phosphodiesterase 3 A expression in gastrointestinal stromal tumors.磷酸二酯酶3A在胃肠道间质瘤中的表达
Virchows Arch. 2025 Jun 18. doi: 10.1007/s00428-025-04150-1.
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J Surg Case Rep. 2025 May 31;2025(6):rjaf344. doi: 10.1093/jscr/rjaf344. eCollection 2025 Jun.
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Front Oncol. 2025 Apr 29;15:1580558. doi: 10.3389/fonc.2025.1580558. eCollection 2025.
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J Gastrointest Cancer. 2025 May 12;56(1):116. doi: 10.1007/s12029-025-01236-6.
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ABL 开关控制抑制剂 DCC-2036 对慢性髓性白血病突变体 BCR-ABL T315I 有效,且耐药谱较窄。
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