论文部分内容阅读
大多数胃肠道间质瘤(GISTs)都存在编码Ⅲ型酪氨酸激酶受体的KIT基因的功能获得性突变,但仍有部分GIST中未检测出KIT的激活突变,其中血小板源性生长因子受体α(PDGFR-α)基因突变的发现代表了GIST中具有独特的遗传学、生物学和表型特征的一类亚型。PDGFR-α基因突变是导致GIST发生发展的关键机制之一,突变类型多样,与GIST患者的临床病理表现及预后密切相关。应用伊马替尼对包含该突变体的肿瘤进行分子靶向治疗,多数患者表现为药物抵抗。
Most GISTs present a gain-of-function mutation of the KIT gene that encodes the type III tyrosine kinase receptor, but there are still no activating mutations of KIT detected in some of the GISTs, with platelet-derived growth The discovery of mutations in the factor receptor alpha (PDGFR-alpha) gene represents a subtype of GIST that has unique genetic, biological, and phenotypic characteristics. Mutation of PDGFR-α gene is one of the key mechanisms leading to the development of GIST. The mutation types are diverse and closely related to the clinicopathological features and prognosis of GIST. The use of imatinib for molecular targeted therapy of tumors that contain the mutant, most of whom showed drug resistance.