Parfitt Jeremy R, Streutker Cathy J, Riddell Robert H, Driman David K
Department of Pathology, London Health Sciences Centre, 339 Windermere Road, London, Ont., Canada N6A 5A5.
Pathol Res Pract. 2006;202(12):837-47. doi: 10.1016/j.prp.2006.08.006. Epub 2006 Oct 24.
The literature on gastrointestinal stromal tumors (GISTs) has rapidly expanded and has demonstrated how scientific advancements in diagnosis can revolutionize the understanding of disease, while paving the way for effective treatment. While KIT (CD117) immunohistochemistry has established our definition of GISTs, molecular genetics continue to refine it. Elucidation of the aberrant receptor tyrosine kinase (RTK) model of GIST pathogenesis through mutations in c-kit and platelet-derived growth factor alpha PDGFRalpha proto-oncogenes has been prerequisite to the use of imatinib mesylate (STI571, Gleevec; Novartis, Switzerland), a molecular inhibitor of several tyrosine kinases, in the treatment of GISTs. In addition to providing a means for effective treatment, clarification of the molecular pathology of GISTs may potentially offer a new classification of these tumors by correlating genotype with histological, immunohistochemical, and clinical phenotype. This article seeks to review current knowledge of GISTs, offering a practical guide to their diagnosis and describing current epidemiological, molecular biological, and therapeutic aspects.
关于胃肠道间质瘤（GISTs）的文献迅速增加，展示了诊断方面的科学进展如何彻底改变对疾病的认识，同时为有效治疗铺平道路。虽然KIT（CD117）免疫组织化学确定了我们对GISTs的定义，但分子遗传学仍在不断完善它。通过c-kit和血小板衍生生长因子α（PDGFRα）原癌基因的突变阐明GIST发病机制的异常受体酪氨酸激酶（RTK）模型，是使用甲磺酸伊马替尼（STI571，格列卫；瑞士诺华公司）治疗GISTs的前提条件，甲磺酸伊马替尼是几种酪氨酸激酶的分子抑制剂。除了提供有效治疗手段外，阐明GISTs的分子病理学可能通过将基因型与组织学、免疫组织化学和临床表型相关联，为这些肿瘤提供新的分类方法。本文旨在综述GISTs的当前知识，提供其实用诊断指南，并描述当前的流行病学、分子生物学和治疗方面。
