Bannon Amber E, Klug Lillian R, Corless Christopher L, Heinrich Michael C
a Portland VA Health Care System and OHSU Knight Cancer Institute , Portland , OR , USA.
Expert Rev Mol Diagn. 2017 May;17(5):445-457. doi: 10.1080/14737159.2017.1308826. Epub 2017 Mar 27.
The diagnosis and treatment of gastrointestinal stromal tumor (GIST) has emerged as a paradigm for modern cancer treatment ('precision medicine'), as it highlights the importance of matching molecular defects with specific therapies. Over the past two decades, the molecular classification and diagnostic work up of GIST has been radically transformed, accompanied by the development of molecular therapies for specific subgroups of GIST. This review summarizes the developments in the field of molecular diagnosis of GIST, particularly as they relate to optimizing medical therapy. Areas covered: Based on an extensive literature search of the molecular and clinical aspects of GIST, the authors review the most important developments in this field with an emphasis on the differential diagnosis of GIST including mutation testing, therapeutic implications of each molecular subtype, and emerging technologies relevant to the field. Expert commentary: The use of molecular diagnostics to classify GIST has been shown to be successful in optimizing patient treatment, but these methods remain under-utilized. In order to facilitate efficient and comprehensive molecular testing, the authors have developed a decision tree to aid clinicians.
胃肠道间质瘤（GIST）的诊断和治疗已成为现代癌症治疗（“精准医学”）的范例，因为它突出了将分子缺陷与特定疗法相匹配的重要性。在过去二十年中，GIST的分子分类和诊断工作发生了根本性转变，同时也伴随着针对GIST特定亚组的分子疗法的发展。本综述总结了GIST分子诊断领域的进展，特别是与优化药物治疗相关的进展。涵盖领域：基于对GIST分子和临床方面的广泛文献检索，作者回顾了该领域最重要的进展，重点是GIST的鉴别诊断，包括突变检测、每种分子亚型的治疗意义以及该领域的新兴技术。专家评论：利用分子诊断对GIST进行分类已被证明在优化患者治疗方面是成功的，但这些方法仍未得到充分利用。为了促进高效和全面的分子检测，作者开发了一个决策树来帮助临床医生。
