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目的探讨胃肠道间质瘤(gastrointestinal stromal tumor,GIST)c-kit基因突变特征与临床病理、分子靶向治疗及预后的相关性。方法采用文献复习的方法,对研究胃肠道间质瘤分子遗传学机理的相关文献加以综述。结果 c-kit基因突变可能是GIST发生的早期事件,是GIST的普遍现象,不能作为GIST预后判断的指标。然而,c-kit突变位点和方式是否影响GIST的生物学行为,能否作为评估预后的指标仍存在争议。结论基因突变检测对从分子水平上研究疾病、判断预后以及指导用药具有重要意义,需要不断地深入研究。
Objective To investigate the correlation between c-kit gene mutation and clinical pathology, molecular targeted therapy and prognosis in gastrointestinal stromal tumor (GIST). Methods The methods of literature review were reviewed to review the relevant literature on the molecular genetic mechanism of gastrointestinal stromal tumors. Results The mutation of c-kit gene may be an early event in GIST. It is a common phenomenon of GIST and can not be used as an indicator of prognosis of GIST. However, whether the site and manner of c-kit mutations affect the biological behavior of GIST remains controversial as an indicator of prognosis. Conclusion The detection of gene mutation is of great importance to the study of disease at the molecular level, prognosis and guidance of medication. It is necessary to continuously study the gene mutation.