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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.

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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