伴或不伴印戒细胞成分的结直肠黏液腺癌的临床病理特征及基因突变谱分析  

Clinicopathological features and gene mutation profiles of colorectal mucinous adenocarcinoma with or without signet ring cell components

作　　者：周良锐 陆俊良[1,2] 吴焕文 张志文[1,2] 鲁涛 高洁[1,2] 刘笑玎[1,2] 王婧[1,2] 梁智勇 ZHOU Liang-rui;LU Jun-liang;WU Huan-wen;ZHANG Zhi-wen;LU Tao;GAO Jie;LIU Xiao-ding;WANG Jing;LIANG Zhi-yong(Department of Pathology,Chinese Academy of Medical Peking Union Medical College Hospital,Beijing 100730,China;Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院病理科,北京100730 [2]北京协和医学院,北京100730

出　　处：《临床与实验病理学杂志》2019年第7期762-767,共6页Chinese Journal of Clinical and Experimental Pathology

摘　　要：目的探讨结直肠黏液腺癌的临床病理特征及基因突变。方法收集101例结直肠黏液腺癌的病理资料,采用二代测序法对石蜡包埋样本中31个热点基因进行分析,并比较结直肠黏液腺癌伴和不伴印戒细胞分化的临床病理特征和基因突变谱的差异。结果101例患者中,有15例(14.9%)有印戒细胞分化,86例(85.1%)无印戒细胞成分。两组男性均多于女性(黏液腺癌伴和不伴印戒细胞分化中男性分别为60.0%、58.1%),晚期疾病比例较高(Ⅲ、Ⅳ期疾病分别占57.1%、57.6%)。伴印戒细胞分化的肿瘤体积较小,年龄较小,好发于近端结肠,分期较高。伴与不伴印戒细胞分化的结直肠黏液腺癌,与患者年龄和肿瘤大小差异有统计学意义(P<0.05)。无印戒细胞分化的结肠癌KRAS突变频率明显高于有印戒细胞分化者(P=0.001)。结论黏液腺癌的伴戒细胞分化与不伴印戒细胞分化相比,具有不同的临床病理特征和分子基础。Purpose To investigate the clinicopathological features and gene mutation profiles of colorectal mucinous adenocarcinoma.Methods 101 cases of colorectal mucinous adenocarcinoma were collected.Thirty-one hotspot genes in paraffin-embedded samples were analyzed by next-generation sequencing.The differences in clinicopathological characteristics and gene mutation profiles between colorectal mucinous adenocarcinoma with and without signet ring cell differentiation were compared.Results Among 101 patients,15(14.9%)had signet ring cell differentiation and 86(85.1%)were absent for signet ring cell components.Both groups showed male predilection(60.0%and 58.1%for mucinous adenocarcinoma with and without signet ring cell differentiation,respectively,similarly hereinafter),with comparably high proportions of late-stage diseases(stageⅢandⅣdiseases accounted for 57.1%and 57.6%,respectively).Cases with signet ring cell differentiation tended to be smaller,occurred at younger age,preferred proximal colon-localization,and were prone to having higher stage.However,only differences in age of presentation and tumor size were statistically significant.The mutation frequency of KRAS in colon mucinous adenocarcinoma without signet ring cell differentiation was significantly higher than that in cases with signet ring cell differentiation(P=0.001).Conclusion Signet ring cell differentiation in mucinous adenocarcinoma could potentially represent an entity with different clinicopathological characteristics and have its molecular basis compared to those without signet ring cell differentiation.

关 键 词：结直肠肿瘤 黏液腺癌 印戒细胞分化 KRAS 临床病理特征 

分 类 号：R735.3[医药卫生—肿瘤]