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胃大、小胃肠道间质瘤临床病理特征及c-Kit基因突变的比较 被引量:10

Clinical pathological features and c-Kit gene mutation in small GISTs and overt-GISTs
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摘要 目的探讨胃大、小胃肠道间质瘤(gastrointestinal stromal tumors,GISTs)的临床病理特征和c-Kit驱动基因突变,并分析两者间的相关性。方法分析76例胃小GISTs和124例胃大GISTs临床病理特征及免疫表型特征;双向直接测序法检测cKit基因9、11、13和17外显子的突变差异。结果胃小GISTs与胃大GISTs相比,其发病年龄较高,男性略多于女性。胃大GISTs组织形态学表现为梭形细胞、上皮样细胞和混合细胞亚型,而小GISTs多数为梭形细胞亚型,仅2例为混合细胞亚型,无上皮样细胞亚型。胃大CISTs间质较易出现黏液样变性(32.26%,40/124);胃小GISTs常发生营养不良性钙化(78.95%,60/76)。对胃大、小GISTs各50例行双向直接测序,分别有26例和21例出现c-Kit基因11外显子突变(52%vs 42%),两者差异无统计学意义。未检测到c-Kit基因9、13、17外显子突变。结论c-Kit基因突变可能仅是胃GISTs的驱动基因,而非控制生长的关键基因,胃小GISTs可能是大GISTs的前驱病变。 Purpose To investigate the difference of clinical pathological features and c-Kit gene mutation in small gastrointestinal stromal tumors(GISTs) and overt-GISTs. Methods The clinical pathological and immunohistochemical characteristics of 76 small GISTs and 124 overt-GISTs were analyzed. The mutation difference of c-Kit gene 9, 11, 13 and 17 was detected by bi-directional Sanger sequencing. Results Compared with the overt-GISTs, the patients with small GISTs had a higher age and slightly more men than women. The morphologic subtypes of overt-GISTs were the spindle cells, epithelioid cells and mixed cells variants, however the subtype of small GISTs mostly was the spindle cells variant, only 2 mixed cells subtype, no epithelioid cells variant. The myxoid stromal(32. 26%, 40/124) was more likely to occur in the overt-GISTs, while the small GISTs often suffered from dystrophic calcification(78. 95%, 60/76).26 cases overt-GISTs and 21 cases small GISTs had c-Kit gene11 exon mutation, however, with no significant difference. No mutation was detected in exon 9, 13 and 17. Conclusion The c-Kit gene mutation may be only the driver gene of GISTs, rather than the key gene to control GISTs growth. Small GISTs may be a precursor lesions of overt-GISTs in stomach.
作者 吴晶晶 张声 王密 任彩虹 陈祥娜 陈余朋 WU Jing-jing;ZHANG Sheng;WANG Mi;REN Cai-hong;CHEN Xiang-na;CHEN Yu-peng(Department of Pathology, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, Chin)
出处 《临床与实验病理学杂志》 CAS CSCD 北大核心 2018年第4期359-363,369,共6页 Chinese Journal of Clinical and Experimental Pathology
基金 福建省自然科学基金(2015J01452)
关键词 胃肿瘤 胃肠间质瘤 小胃肠间质瘤 C-KIT 临床病理特征 gastric neoplasms gastrointestinal stromal tumor small gastrointestinal stromal tumors e-Kit clinical pathological features
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