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GISTogram:一种不断发展的 GIST 复杂性的图形表示。

GISTogram: a graphic presentation of the growing GIST complexity.

机构信息

Department of Pathology, Università Cattolica del Sacro Cuore, Largo A. Gemelli 8, 00168, Roma, Italy,

出版信息

Virchows Arch. 2013 Oct;463(4):481-7. doi: 10.1007/s00428-013-1467-4. Epub 2013 Aug 23.

DOI:10.1007/s00428-013-1467-4
PMID:23975171
Abstract

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. They have represented a paradigm of molecular-targeted therapies for solid tumors since the discovery of KIT mutations and KIT expression in GIST in 1998, which opened the way to the use of imatinib, a tyrosine kinase inhibitor able to inhibit the growth of cells expressing KIT-mutant isoforms. Since then, accumulating evidence revealed the rather heterogeneous nature of GIST, implying possible different diagnostic and therapeutic approaches for each specific case, leading to the development of drugs alternative to imatinib. In this brief commentary, we graphically represent the historical growing of genotype and phenotype evidence on GIST since 1998 in its increasing complexity by building up a graph, which we have called "GISTogram", that visually conveys most of GIST-characterizing features and the probability for each of them, either alone or in combination, to be observed in a single GIST case.

摘要

胃肠道间质瘤(GISTs)是胃肠道最常见的间叶性肿瘤。自 1998 年发现 GIST 中的 KIT 突变和 KIT 表达以来,它们代表了实体瘤分子靶向治疗的范例,这为伊马替尼的应用开辟了道路,伊马替尼是一种能够抑制表达 KIT 突变体同工型的细胞生长的酪氨酸激酶抑制剂。从那时起,越来越多的证据揭示了 GIST 的相当异质性,这意味着每个具体病例可能需要不同的诊断和治疗方法,从而导致了替代伊马替尼的药物的发展。在这篇简短的评论中,我们通过构建一个图形,即“GISTogram”,以图形方式展示了自 1998 年以来 GIST 基因型和表型证据在不断增加的复杂性方面的历史增长,该图形直观地传达了大多数 GIST 的特征以及它们中的每一个单独或组合在单个 GIST 病例中被观察到的可能性。

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本文引用的文献

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BRAF mutant gastrointestinal stromal tumor: first report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance.BRAF 突变型胃肠道间质瘤:BRAF 抑制剂达拉非尼(GSK2118436)治疗后肿瘤消退的首例报告及用于分析获得性耐药的全外显子测序
Oncotarget. 2013 Feb;4(2):310-5. doi: 10.18632/oncotarget.864.
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Expression of the receptor for type i insulin-like growth factor (IGF1R) in gastrointestinal stromal tumors: an immunohistochemical study of 1078 cases with diagnostic and therapeutic implications.Ⅰ型胰岛素样生长因子受体(IGF1R)在胃肠道间质瘤中的表达:对 1078 例病例的免疫组织化学研究及其诊断和治疗意义。
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首次报道一名患有胃胃肠道间质瘤(GIST)的年轻成人存在生殖系c.1A>C杂合致病性变异:病例报告。
Hered Cancer Clin Pract. 2019 Aug 9;17:23. doi: 10.1186/s13053-019-0124-6. eCollection 2019.
4
Molecular Comparison of Imatinib-Naïve and Resistant Gastrointestinal Stromal Tumors: Differentially Expressed microRNAs and mRNAs.初治和耐药胃肠道间质瘤的分子比较:差异表达的微小RNA和信使核糖核酸
Cancers (Basel). 2019 Jun 24;11(6):882. doi: 10.3390/cancers11060882.
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Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors: Small Steps Toward Personalized Medicine?琥珀酸脱氢酶缺陷型胃肠道间质瘤:迈向个性化医疗的小步伐?
Epigenet Insights. 2019 Apr 12;12:2516865719842534. doi: 10.1177/2516865719842534. eCollection 2019.
6
Preferential MGMT methylation could predispose a subset of KIT/PDGFRA-WT GISTs, including SDH-deficient ones, to respond to alkylating agents.优先的 MGMT 甲基化可能使包括 SDH 缺陷型在内的一部分 KIT/PDGFRA-WT GIST 对烷化剂敏感。
Clin Epigenetics. 2019 Jan 7;11(1):2. doi: 10.1186/s13148-018-0594-9.
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