胃肠道间质瘤临床病理及c-KIT基因检测

目的：探讨胃肠道间质瘤(Gastrointestinal stromal tumors，GIST)的临床病理、免疫组织化学和c-KIT基因突变情况。方法收集我院2010年4月至2012年12月收治的26例经手术切除病理确诊的GIST患者，对26例病例采用免疫组织化学行c-KIT蛋白(CD117)、CD34、平滑肌肌动蛋白（SMA)、人S100蛋白(S-100)检测，以确诊为GIST。采用直接测序方法对c-KIT基因11、9、13、17号的外显子突变进行序列分析。结果26例病例中CD117阳性为22例，共14例(53.8%)检测到c-KIT突变，第11外显子是KIT基因最常见的突变位点，检测到的突变形式主要有缺失突变，点突变和插人突变，均为杂合性突变。结论 CD117阳性及c-KIT突变是GIST的普遍现象，突变位点有集中趋势，以梭形细胞型突变最常见。

Clinicpathological features and c-KIT gene detection of gastrointestinal stromal tumor

Objective To explore the clinicopathological, immunohistochemical features and c-KIT gene muta-tions of gastrointestinal stromal tumors (GIST). Methods Twenty-six patients of GIST confirmed pathologically in our hospital from Apr. 2010 to Dec. 2012 were detected for CD117, CD34, smooth muscle actin (SMA) and S-100 with im-munohistochemistry to confirm the diagnosis. Direct sequencing technique was used to identify the mutation of c-KIT (exon 9,11,13,17). Results Among the 26 patients, there were 22 patients with CD117 positive and 14 patients (53.8%) with mutations of c-KIT. Mutations of c-KIT exon 11 were mostly detected, mainly deletion, point mutation and inser-tion. Conclusion CD117 positivity and c-KIT mutation are common in GIST, and they are mostly detected in spin-dle-cell GISTs.