深圳地区74例胃肠道间质瘤的临床病理、免疫组织化学和基因外显子突变分析

Analysis of the clinicopathologic,immunohistochemistry and mutation of gene exons in 74 cases of gastrointestinal stromal tumor in Shenzhen

目的探讨深圳地区胃肠道间质瘤患者(GIST)的临床病理、免疫组织化学和基因外显子突变的特点。方法对深圳地区74例经手术治疗的GIST患者的临床病理资料进行回顾性分析,使用免疫组织化学方法检测CD117、CD34、SMA及S-100在GIST中的表达;用PCR扩增和直接测序方法检测13例肿瘤最大径超过5cm的GISTc-kit外显子9、11、13、17及PDGFRA基因外显子12、18的突变。结果 CD117、CD34、SMA及S-100的阳性率分别为83.8%(62/74)、81.1%(60/74)、31.0%(23/74)和5.4%(4/74);13例肿瘤最大径大于5cm的GIST中有12例(92.3%)检测到了基因外显子突变,其中8例(61.5%)为c-kit基因11号外显子突变,2例(15.4%)c-kit基因9号外显子突变,1例(7.7%)c-kit基因外显子13突变,1例(7.7%)PDGFRA基因外显子18突变。结论 CD117、CD34是GIST较为敏感的标志物,可作为GIST的诊断指标。而c-kit基因11号外显子在高度危险性的GIST中突变明显,提示其对判断GIST的预后更有价值。深圳地区的GIST的临床病理、免疫组织化学和基因外显子突变特点与国内外大宗病例报道基本一致。

【Objective】 To explore the characteristics of clinicopathologic,immunohistochemistry and gene exons mutation of gastrointestinal stromal tumor in Shenzhen.【Methods】 Retrospectively analyzed clinicopathological feature of 74 surgical cases of GIST in Shenzhen.The expression levels of CD117,CD34,SMA and S-100 were detected by immunohistochemical method.Mutation of c-kit（exon 9,11,13,17） and PDGFRA gene（exon 12,18） in 13 cases of GIST whose diameters are more than 5 cm were examined by PCR amplification and direct sequencing.【Results】 Positive rates of the CD117,CD34,SMA and s-100 were 83.8%（62/74）,81.1%（60/74）,31.1%（23/74） and 5.4%（4/74） respectively.12 cases with mutation were detected in 13 cases of GIST which diameters are more than 5cm,including 8 cases（61.5%） with c-kit exon11 mutations,2 cases（15.4%） with c-kit exon9 mutations,1 case（7.7） with c-kit exon13 mutations,1 case（7.7%） with PDGFRA exon18 mutations.【Conclusion】 CD117 and CD34 are could be the diagnosable marker of GIST because they are quite sensitive.C-kit exon11 may play an more important role in predicting the prognosis for GIST,since it is more obvious in high risk GIST than others.The characteristics of characteristics of clinic,pathology,immunohistochemistry and gene exons mutation of gastrointestinal stromal tumor in Shenzhen were consistent with reports of domestic and international bulk.