骶骨胃肠间质瘤的临床病理学特点、克隆性及c-kit基因突变分析  

Clinicopathological observation,clonal status and c-kit gene mutation of gastrointestinal stromal tumor in sacrum

作　　者：巩丽[1] 赵建业[1] 李艳红 张力[1] 韩秀娟[1] 刘小艳[1] 朱少君[1] 张伟[1] 

机构地区：[1]中国人民解放军第四军医大学唐都医院病理科,陕西省西安市710038 [2]中国人民解放军第四军医大学唐都医院妇产科,陕西省西安市710038

出　　处：《世界华人消化杂志》2009年第3期316-320,共5页World Chinese Journal of Digestology

基　　金：国家自然科学基金资助项目;No.30171052~~

摘　　要：目的:探讨发生于骶骨的胃肠间质瘤(gastrointe stinalstromal tumor,GIST)的临床病理学特点、c-kit基因突变情况及克隆性.方法:手术切除标本经常规HE染色和免疫组化染色观察确诊后,应用显微切割技术分离病变及病变周围纤维结缔组织,提取基因组DNA,再进行c-kit基因外显子9、11、13和17的PCR扩增和测序.同时利用女性X染色体失活的嵌合性和磷酸甘油酸激酶(phosphoglycerate kinase,PGK)和雄激素受体(androgen receptor,AR)基因位点的多态性进行克隆性检测.结果:光镜下瘤细胞主要为梭形,呈束状、编织状或旋涡状排列;胞质丰富,嗜酸性或中性;细胞核杆状或长梭形,核分裂像罕见.免疫组化标记瘤细胞表达CD117和CD34强阳性.PCR产物直接测序检测揭示c-kit基因外显子11有突变发生,而外显子9、13和17均无突变.克隆性检测结果示GIST为单克隆性病变.结论:GIST是肿瘤性病变;发生于骶骨的GIST的诊断需要通过免疫组化来确诊,并行c-kit基因扩增的检测以及测序进一步证实.AIM： To elucidate the clinicopathological features, c-kit gene mutation and clonal status of gastrointestinal stromal tumor that occurs in sacrum. METHODS： After the sample was confirmed by histopathology and immunohistochemistry, genomic DNA was isolated from the lesions and the surrounding fibrous connective tissue as control. Then, direct PCR sequencing was used to investigate the mutation status of c-kit gene exons 9, 11, 13, 17. Moreover, a clonality assay was examined based on X-chromosomal inactivation mosiacism in female somatic tissues and polymorphism of phosphoglycerate kinase （PGK） and androgen receptor （AR） genes. RESULTS： Microscopically, the sample showed typical histological characteristics. Lesions were composed of spindle cells arranged in cords, knit and whirlpool patterns. The cytoplasm of tumor cells was abundant, and the nuclei were stafflike or fusiform. Mitosis figure was rare. Immunohistochemically, the tumor cells showed positive reactions for CD117 and CD34. On mutation analysis, the c-kit gene mutation was found in exon 11. The result of clonal analysis demonstrated that GIST was monoclonal. CONCLUSION： GIST is a neoplastic lesion. It is very rare that GIST occurs in sacrum. It is difficult to differentiate from other spindle cell tumors, so it should be diagnosed by immunohistochemistry, and confirmed by the examination of c-kit gene amplification and sequencing.

关 键 词：胃肠间质瘤 骶骨 C-KIT基因 克隆性 

分 类 号：R738.1[医药卫生—肿瘤]