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胃肠道间质瘤的体细胞药物基因组学

Somatic pharmacogenomics of gastrointestinal stromal tumor.

作者信息

Ravegnini Gloria, Hrelia Patrizia, Angelini Sabrina

机构信息

Department of Pharmacy and Biotechnology, University of Bologna, Bologna 40126, Italy.

These authors equally contributed to this work.

出版信息

Cancer Drug Resist. 2019 Mar 19;2(1):107-115. doi: 10.20517/cdr.2019.02. eCollection 2019.

DOI:10.20517/cdr.2019.02
PMID:35582147
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9019173/
Abstract

Gastrointestinal stromal tumors (GISTs) are rare entities, which, however, represent the most common mesenchymal tumor of the gastrointestinal tract. The discovery of gain of function mutations on and receptor genes led to a deep revolution in the knowledge of this tumor. This paved the way to the introduction of imatinib and other tyrosine-kinase inhibitors (TKIs), which terrifically revolutionized the prognosis of GIST patients. Currently, it is well established that tumor mutational status is the main player in clinical outcome; however, with the research advances, it has been slowly understood that GIST landscape is more complex than expected and the TKIs available are not effective for all the GIST subtypes. For this reason, in the era of tailored/personalized medicine, each GIST patient should be considered individually and genetic consult should be the first step to take in consideration in the therapeutic decision making process.

摘要

胃肠道间质瘤(GISTs)是罕见的疾病,然而,它却是胃肠道最常见的间充质肿瘤。 和 受体基因功能获得性突变的发现引发了对这种肿瘤认知的深刻变革。这为伊马替尼和其他酪氨酸激酶抑制剂(TKIs)的引入铺平了道路,这些药物极大地改变了GIST患者的预后。目前,肿瘤突变状态是临床结果的主要决定因素,这一点已得到充分证实;然而,随着研究的进展,人们逐渐认识到GIST的情况比预期更为复杂,现有的TKIs对所有GIST亚型并不都有效。因此,在精准/个性化医疗时代,每个GIST患者都应被单独考虑,基因咨询应是治疗决策过程中首先要考虑的步骤。

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引用本文的文献

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"Pharmacogenetics of Cancer" - special issue.《癌症的药物遗传学》——特刊
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本文引用的文献

1
Association of Imatinib Plasma Concentration and Single-nucleotide Polymorphisms with Adverse Drug Reactions in Patients with Gastrointestinal Stromal Tumors.伊马替尼血药浓度与单核苷酸多态性与胃肠道间质瘤患者药物不良反应的关系。
Mol Cancer Ther. 2018 Dec;17(12):2780-2787. doi: 10.1158/1535-7163.MCT-18-0498. Epub 2018 Oct 3.
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Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.胃肠道幼年型(炎症/增生性)黏膜息肉,伴 1 型神经纤维瘤病,无其他综合征的遗传或临床证据。
Virchows Arch. 2019 Feb;474(2):259-264. doi: 10.1007/s00428-018-2462-6. Epub 2018 Oct 1.
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Identification of critical microRNAs in gastrointestinal stromal tumor patients treated with Imatinib.伊马替尼治疗胃肠间质瘤患者中关键 microRNAs 的鉴定。
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An exploratory study by DMET array identifies a germline signature associated with imatinib response in gastrointestinal stromal tumor.一项通过 DMET 阵列进行的探索性研究确定了与胃肠道间质瘤伊马替尼反应相关的种系特征。
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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.BRAF 状态可能预测对伊马替尼、舒尼替尼和瑞戈非尼耐药的胃肠道间质瘤对索拉非尼的反应:病例系列和文献复习。
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Current clinical management of gastrointestinal stromal tumor.胃肠道间质瘤的当前临床管理。
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Structural and clinical consequences of activation loop mutations in class III receptor tyrosine kinases.III 类受体酪氨酸激酶激活环突变的结构和临床后果。
Pharmacol Ther. 2018 Nov;191:123-134. doi: 10.1016/j.pharmthera.2018.06.016. Epub 2018 Jun 30.
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Epigenetics: an alternative pathway in GISTs tumorigenesis.表观遗传学:GISTs 肿瘤发生的另一种途径。
Neoplasma. 2018;65(4):477-493. doi: 10.4149/neo_2018_170726N504.
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Advances and Challenges on Management of Gastrointestinal Stromal Tumors.胃肠道间质瘤管理的进展与挑战
Front Oncol. 2018 May 7;8:135. doi: 10.3389/fonc.2018.00135. eCollection 2018.
10
Gastrointestinal stromal tumours: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up.胃肠道间质瘤:ESMO-EURACAN诊断、治疗及随访临床实践指南
Ann Oncol. 2018 Oct 1;29(Suppl 4):iv68-iv78. doi: 10.1093/annonc/mdy095.