Sarcoma and Melanoma Unit, Department of Oncology, Son Dureta Hospital, Palma de Mallorca, Baleares, Spain.
Clin Transl Oncol. 2010 Oct;12(10):670-6. doi: 10.1007/s12094-010-0576-7.
Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract. GISTs are characterised by the expression of KIT, a type III tyrosine kinase receptor, and the presence of mutations in KIT or PDGFRA in about 80-85% of cases. The primary treatment for GIST is surgery, which cures most patients with low- or intermediate-risk tumours. The introduction of the kinase inhibitor imatinib mesylate, and sunitinib in second line, against KIT and PDGFRA has provided the first evidence of directed therapy in GIST. The aim of this review is to highlight the growing evidence that KIT and PDGFRA genotyping provides valuable information for the clinical management of GIST patients. We show that KIT and PDGFRA genotyping has emerged as one of the principal factors in the evaluation of GISTs, particularly in those tumours that are clearly malignant or have a high risk of recurrence. In addition to helping establish the diagnosis of GIST in unusual cases, genotyping can be very useful to physicians and patients in deciding on imatinib dose, in estimating the likelihood and duration of benefit, and potentially in selecting second-line therapies.
胃肠道间质瘤（GISTs）是胃肠道最常见的间叶性肿瘤。GISTs 的特征是表达 KIT，一种 III 型酪氨酸激酶受体，并且在大约 80-85%的病例中存在 KIT 或 PDGFRA 的突变。GIST 的主要治疗方法是手术，它可以治愈大多数低风险或中风险的肿瘤患者。激酶抑制剂伊马替尼甲磺酸和舒尼替尼的引入，针对 KIT 和 PDGFRA，为 GIST 提供了靶向治疗的首个证据。本综述的目的是强调越来越多的证据表明，KIT 和 PDGFRA 基因分型为 GIST 患者的临床管理提供了有价值的信息。我们表明，KIT 和 PDGFRA 基因分型已成为评估 GIST 的主要因素之一，特别是在那些明确恶性或复发风险高的肿瘤中。除了有助于在不常见的情况下确立 GIST 的诊断外，基因分型对于医生和患者在确定伊马替尼剂量、估计获益的可能性和持续时间以及潜在地选择二线治疗方面也非常有用。
