Kirsch Richard, Gao Zu-Hua, Riddell Robert
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
Adv Anat Pathol. 2007 Jul;14(4):261-85. doi: 10.1097/PAP.0b013e3180ca826a.
Over the last decade, gastrointestinal stromal tumors (GISTs) have evolved from histogenetically obscure gastrointestinal mesenchymal tumors to well-defined tumors with distinctive clinical, morphologic, ultrastructural, histogenetic, and molecular characteristics, for which targeted therapy is available. This is largely attributable to the discovery of CD117 overexpression and activating mutations in c-kit or platelet-derived growth factor alpha genes in most of GISTs. The availability of specific diagnostic tests and targeted therapy for GISTs has led to an increased awareness of these tumors. At the same time, the list of potential GIST mimics has lengthened considerably and it has become increasingly important that GISTs be distinguished from their mimics because correct diagnosis has implications for both treatment and prognosis. The purpose of this review is to provide an update of the expanding differential diagnosis of GISTS, to draw attention to unusual GIST variants, to provide a practical approach the differential diagnosis of GISTs and to highlight some of the challenges faced by pathologists in resolving this differential diagnosis.
在过去十年中，胃肠道间质瘤（GISTs）已从组织发生学上不明的胃肠道间充质肿瘤演变为具有独特临床、形态学、超微结构、组织发生学和分子特征且有靶向治疗方法的明确肿瘤。这在很大程度上归因于在大多数GISTs中发现了CD117过表达以及c-kit或血小板衍生生长因子α基因的激活突变。针对GISTs的特异性诊断测试和靶向治疗方法的出现，提高了对这些肿瘤的认识。与此同时，潜在的GISTs模仿物清单大幅增加，区分GISTs与其模仿物变得越来越重要，因为正确诊断对治疗和预后都有影响。本综述的目的是更新GISTs不断扩展的鉴别诊断，提请注意不常见的GISTs变体，提供一种GISTs鉴别诊断的实用方法，并强调病理学家在解决这一鉴别诊断时面临的一些挑战。
