结直肠癌KRAS基因突变与临床病理特征的相关性  

Correlation of KRAS gene mutations and clinieopathologic parameters in colorectal carcinoma

作　　者：王琼[1] 钟梅[1] 吕亚莉[1] 袁静[1] 韦立新[1] 

机构地区：[1]解放军总医院病理科,北京100853

出　　处：《中华病理学杂志》2012年第9期603-606,共4页Chinese Journal of Pathology

摘　　要：目的探讨结直肠癌患者中KRAS基因突变与临床病理特征及预后的关系。方法应用PCR扩增DNA，直接测序法检测244例结直肠癌患者KRAS基因突变情况并分析其与临床病理特征及预后的关系。结果在检测的244例结直肠癌患者中有92例（37．7％）存在KRAS基因突变，第12位密码子发现5种突变类型，分别是G12D（40／244，16．4％）、G12V（16／244，6．6％）、G12A（7／244，2．9％）、G12S（5／244，2．0％）和G12C（4／244，1．6％）；第13位密码子有2种突变类型，分别为G13D（17／244，7．0％）和G13C（2／244，0．8％）；第61位密码子有1种突变为Q61K（1／244，0．4％）。KRAS基因突变率女性（45．6％，36／79）高于男性（32．1％，53／165），两者差异具有统计学意义（P〈0．05）。结论结直肠癌中KRAS基因突变率女性高于男性，而与患者年龄、肿瘤部位、大体类型、分化程度、浸润深度、TNM分期、淋巴结转移、浸润程度及远处转移无相关性，KRAS基因突变与预后不具有相关性。Objective To investigate the relationship between KRAS gene mutations and clinicopathological parameters in patients with colorectal carcinoma （CRC）. Methods PCR-based direct sequencing was used to detect the mutations of KRAS gene and to correlate between clinicopathological characteristics and the presence of various KRAS mutations in 244 cases of CRC. Results KRAS mutations were identified in 92 cases （37.7%） of CRC. Five types of mutation were detected at codon 12, including G12D （40 cases, 16.4% ）, G12V （16 cases, 6. 6% ）, G12A （7 cases, 2. 9% ） ,G12S （5 cases, 2. 0% ） and G12C （4 cases, 1.6% ）. Two types of mutation were detected at codon 13, including G13D （17 cases, 7.0% ） and G13C （2 cases, 0. 8% ）. One type of mutation was detected in codon 61, i. e. Q61K （ 1 case, 0. 4% ）. KRAS mutation rate was higher in females （45.6% ,36/79） than in males （32. 1% ,53/165 ; P 〈 0. 05）, but not related to another clinicopathological characteristics. Conclusions Female CRC patients have a higher KRAS mutation rate than the male patients. KRAS mutation has no significant correlation with patient＇s age, tumor site, tumor gross appearance,degree of differentiation, depth of invasion, TNM stages, lymphatic invasion, abdominal or distant metastases and prognosis in this study.

关 键 词：结直肠肿瘤 DNA突变分析 聚合酶链反应 序列分析 

分 类 号：R735.3[医药卫生—肿瘤]