Schildhaus H-U, Merkelbach-Bruse S, Büttner R, Wardelmann E
Institut für Pathologie, Universitätsklinikum Bonn, Sigmund-Freud-Strasse 25, Bonn, Germany.
Radiologe. 2009 Dec;49(12):1104-8. doi: 10.1007/s00117-009-1850-y.
Gastrointestinal stromal tumors (GIST) show an aggressive behavior with metastases and recurrences in up to 50% of cases. They can be clearly distinguished from other mesenchymal tumors by immunohistochemistry in the vast majority of cases. Of the tumors 85% carry somatic activating mutations in the receptor tyrosine kinases KIT or PDGFRA. The detection of these molecular events has changed the treatment of inoperable and metastatic GISTs dramatically as up to 80% of tumors respond well to tyrosine kinase inhibitors. This treatment has become the gold standard in the last few years with only few side effects. Knowledge of the underlying KIT or PDGFRA mutation is both relevant for the prognosis and treatment response.
胃肠道间质瘤（GIST）具有侵袭性，高达50%的病例会发生转移和复发。在绝大多数病例中，通过免疫组织化学可将它们与其他间充质肿瘤清楚地区分开来。85%的肿瘤在受体酪氨酸激酶KIT或PDGFRA中携带体细胞激活突变。这些分子事件的检测极大地改变了不可切除和转移性GIST的治疗方式，因为高达80%的肿瘤对酪氨酸激酶抑制剂反应良好。在过去几年中，这种治疗已成为金标准，且副作用很少。了解潜在的KIT或PDGFRA突变对于预后和治疗反应都很重要。
