标题：Nucleophosmin1胞浆表达的结肠癌组织中不存在其第12外显子突变

      作者：杨宇峰，张锡迎，杨 梅，谢树瑞，张宝庭
    (东莞市石龙人民医院病理科，广东 东莞 523326)

      卷次： 2014年25卷7期

      【摘要】 目的 观察Nucleophosmin1（NPM1）在结肠癌组织中是否存在NPM1基因第 12外显子突变。
方法 免疫组化检测115例结肠癌组织及相应癌旁组织、10例结肠绒毛状腺瘤、10例管状腺瘤和10例正常结肠
黏膜组织NPM1表达；检查NPM1胞浆表达的结肠癌组织中是否存在NPM1基因第 12外显子突变。结果 在
115例结肠癌样本中有92.1%（106/115）的病例NPM1表达定位于胞核，7.0%（8/115）的病例存在胞浆NPM1表达，
0.9%(1/115)的病例胞核与胞浆NPM1阴性表达；NPM1在结肠癌组织中呈高表达，并且明显高于在相应癌旁组
织、绒毛状腺瘤、管状腺瘤和正常结肠黏膜组织的表达(P均<0.05)。结肠癌组织中NPM1第12外显子结构与正
常黏膜野生型NPM1第12外显子结构的相似。结论 NPM1在结肠癌组织中呈高表达，表明NPM1在结肠癌发
生发展中的潜在作用；NPM1胞浆表达的结肠癌组织中不存在NPM1基因第12外显子突变，说明NPM1以未知
方式而不是基因突变方式参与结肠癌发生发展。

      【关键词】 Nucleophosmin1；结肠癌；基因突变

      【中图分类号】 R735.3+5 【文献标识码】 A 【文章编号】 1003—6350（2014）07—0950—04


Non-presence of mutations in exon 12 of nucleophosmin1 (NPM1) gene in colorectal carcinomas with NPM1
expression in cytoplasm.
YANG Yu-feng, ZHANG Xi-ying, YANG Mei, XIE Shu-rui, ZHANG Bao-ting. Department of
Pathology, Dongguan Shilong Peole's Hospital, Dongguan 523326, Guangdong, CHINA

【Abstract】 Objective To investigate whether there is a presence of mutations in exon 12 of nucleophosmin1
(NPM1) gene in colorectal carcinomas (CRC). Methods We investigated NPM expression by immunohistochemis-
try in histologically normal to malignant colorectal tissues and also investigate whether exon 12 of the NPM1 gene is
mutated in CRC with NPM expression located in cytoplasm. Results Among the 115 samples of colorectal carcino-
mas, 92.1% (106/115) of the tumors showed NPM1-positive expression only in the nucleus, 7.0% (8/115) showed
NPM1-positive expression in cytoplasm, and 0.9% (1/115) showed NPM1-negative expression in cytoplasm and nucle-
us. NPM expression was found significantly up-regulated in CRC compared to adjacent colorectal tissue, villous ade-
noma, tubular adenoma and normal colorectal tissues, respectively (P<0.05 for all). Sequencing of exon 12 of NPM1
gene in CRC was the same as those in normal colorectal tissue. Conclusion NPM expression is found significantly
up-regulated in CRC, suggesting that NPM contributes to oncogenesis of CRC. However, NPM1 exon 12 is not mutat-
ed in CRC, which suggests that NPM1 play a role in the tumorigenesis of CRC through unclear mechanisms rather
than NPM1 mutation.

      【Key words】 Nucleophosmin1; Colon carcinomas; Gene mutation
基金项目：东莞市科技计划医疗卫生类科研一般项目(编号：20131051010064)