标题：胃肠道间质瘤临床病理及c-KIT基因检测

      作者：司海鹏，许红英，李惠，陈劼，王剑蓉
    (南京中医药大学附属医院病理科，江苏 南京 210029)

      卷次： 2016年27卷5期

      【摘要】 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。

      【关键词】 胃肠道间质瘤；病理；c-KIT基因；检测

      【中图分类号】 R735 【文献标识码】 A 【文章编号】 1003—6350（2016）05—0706—04


Clinicpathological features and c-KIT gene detection of gastrointestinal stromal tumor.
SI Hai-peng, XU
Hong-ying, LI Hui, CHEN Jie, WANG Jian-rong. Department of Pathology, the Affiliated Hospital of Nanjing University of
Chinese Medicine, Nanjing 210029, Jiangsu, CHINA

【Abstract】 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.

      【Key words】 Gastrointestinal stromal tumor; Pathology; c-KIT gene; Detection
·论 著·
6350.2016.05.005