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胃肠道间质瘤(GISTs):点突变在治疗中的重要性,一篇综述

Gastrointestinal stromal tumors (GISTs): point mutations matter in management, a review.

作者信息

Oppelt Peter J, Hirbe Angela C, Van Tine Brian A

机构信息

Division of Medical Oncology, Washington University in St. Louis, St. Louis, MO, USA.

Siteman Cancer Center, Washington University in St. Louis, St. Louis, MO, USA.

出版信息

J Gastrointest Oncol. 2017 Jun;8(3):466-473. doi: 10.21037/jgo.2016.09.15.

Abstract

The therapeutic implications of the genomic alterations seen within the drivers of gastrointestinal stromal tumors (GIST) are among the best understood in all of solid tumors. Sequencing of cKIT and PDGFRα should be considered standard practice for the treatment of GIST patients. In this article, we will review the common mutations and how they are utilized in clinical management. In addition, we will review the rare D842V PDGFRα mutation and the diverse molecular group that lacks a mutation in either cKIT or PDGFRα (wild-type GIST) which are best treated on clinical trial. Finally, we will look forward at the future therapies that are ever evolving for management of GIST. Taken together, the scientific advances in understanding the molecular basis of GIST validates the importance of knowing and understanding the mutations that are present in any one patient.

摘要

胃肠道间质瘤(GIST)驱动因素中所发现的基因组改变的治疗意义,在所有实体瘤中是了解得最为透彻的。对于GIST患者的治疗,cKIT和PDGFRα测序应被视为标准做法。在本文中,我们将回顾常见突变以及它们在临床管理中的应用方式。此外,我们还将回顾罕见的D842V PDGFRα突变,以及在cKIT或PDGFRα中均无突变的不同分子组(野生型GIST),这些最好在临床试验中进行治疗。最后,我们将展望不断发展的GIST管理未来疗法。综上所述,在理解GIST分子基础方面的科学进展证实了了解和认识任何一位患者中存在的突变的重要性。

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