中华实验外科杂志
中華實驗外科雜誌
중화실험외과잡지
CHINESE JOURNAL OF EXPERIMENTAL SURGERY
2015年
4期
701-704
,共4页
杨常顺%李伟华%蔡少鑫%王欢%王乐%周飙寰
楊常順%李偉華%蔡少鑫%王歡%王樂%週飆寰
양상순%리위화%채소흠%왕환%왕악%주표환
K-ras基因%鼠类肉瘤滤过性毒菌致癌同源体B1基因%基因突变%结直肠癌
K-ras基因%鼠類肉瘤濾過性毒菌緻癌同源體B1基因%基因突變%結直腸癌
K-ras기인%서류육류려과성독균치암동원체B1기인%기인돌변%결직장암
K-ras gene%v-raf murine sarcoma viral oncogene homolog B1 gene%Gene mutation%Colorectal caner
目的 探讨K-ras、鼠类肉瘤滤过性毒菌致癌同源体B1 (BRAF)基因在结直肠癌中突变特征及其临床意义.方法 采用实时定量聚合酶链反应(Real-time PCR)法检测412例结直肠癌组织K-ras、BRAF基因常见密码子突变特征,分析K-ras、BRAF突变与结直肠癌临床病理特征的关系.结果 412例结直肠癌K-ras基因突变率为37.9％,直肠癌K-ras基因突变率为45.2％,高于结肠癌(28.8％,P ＜0.05).K-ras基因突变中单个位点突变率为35.4％,2个位点的突变率为2.2％,3个位点突变率为0.2％.K-ras突变常见于12和13位密码子,12位密码子占32.0％,分别为G12D(15.0％)、G12V(9.5％)、G12C(3.9％)、G12S (2.9％)、G12A(2.4％)和G12R (0.7％),13位密码子占6.1％,均为G13D.K-ras基因突变方式以G→A为主.Ⅰ+Ⅱ期结直肠癌K-ras基因突变率(30.4％)低于Ⅲ+Ⅳ期(45.2％,P＜0.05),基因位点突变分析只发现G12V突变率在TNM分期Ⅰ+Ⅱ期的突变率(5.9％)低于Ⅲ+Ⅳ期(13.0％,P＜0.05).K-ras基因突变与性别、年龄、肿瘤大小、肿瘤大体类型、组织学分型以及淋巴结转移等临床病理参数无关(P＞0.05).结直肠癌中BRAFV600E基因突变率为2.4％,其中结肠癌中的BRAF基因的突变率(4.9％)高于直肠癌(0.4％,P＜0.05).结论 在结直肠癌中,K-ras基因突变以单个位点突变为主,其中又以G12D最为常见,其中G12V突变可能与结直肠癌进展相关.直肠癌K-ras突变率高于结肠癌,而结肠癌BRAF突变率高于直肠癌.K-ras、BRAF基因突变在结肠癌和直肠癌中的作用机制可能不同.
目的 探討K-ras、鼠類肉瘤濾過性毒菌緻癌同源體B1 (BRAF)基因在結直腸癌中突變特徵及其臨床意義.方法 採用實時定量聚閤酶鏈反應(Real-time PCR)法檢測412例結直腸癌組織K-ras、BRAF基因常見密碼子突變特徵,分析K-ras、BRAF突變與結直腸癌臨床病理特徵的關繫.結果 412例結直腸癌K-ras基因突變率為37.9％,直腸癌K-ras基因突變率為45.2％,高于結腸癌(28.8％,P ＜0.05).K-ras基因突變中單箇位點突變率為35.4％,2箇位點的突變率為2.2％,3箇位點突變率為0.2％.K-ras突變常見于12和13位密碼子,12位密碼子佔32.0％,分彆為G12D(15.0％)、G12V(9.5％)、G12C(3.9％)、G12S (2.9％)、G12A(2.4％)和G12R (0.7％),13位密碼子佔6.1％,均為G13D.K-ras基因突變方式以G→A為主.Ⅰ+Ⅱ期結直腸癌K-ras基因突變率(30.4％)低于Ⅲ+Ⅳ期(45.2％,P＜0.05),基因位點突變分析隻髮現G12V突變率在TNM分期Ⅰ+Ⅱ期的突變率(5.9％)低于Ⅲ+Ⅳ期(13.0％,P＜0.05).K-ras基因突變與性彆、年齡、腫瘤大小、腫瘤大體類型、組織學分型以及淋巴結轉移等臨床病理參數無關(P＞0.05).結直腸癌中BRAFV600E基因突變率為2.4％,其中結腸癌中的BRAF基因的突變率(4.9％)高于直腸癌(0.4％,P＜0.05).結論 在結直腸癌中,K-ras基因突變以單箇位點突變為主,其中又以G12D最為常見,其中G12V突變可能與結直腸癌進展相關.直腸癌K-ras突變率高于結腸癌,而結腸癌BRAF突變率高于直腸癌.K-ras、BRAF基因突變在結腸癌和直腸癌中的作用機製可能不同.
목적 탐토K-ras、서류육류려과성독균치암동원체B1 (BRAF)기인재결직장암중돌변특정급기림상의의.방법 채용실시정량취합매련반응(Real-time PCR)법검측412례결직장암조직K-ras、BRAF기인상견밀마자돌변특정,분석K-ras、BRAF돌변여결직장암림상병리특정적관계.결과 412례결직장암K-ras기인돌변솔위37.9％,직장암K-ras기인돌변솔위45.2％,고우결장암(28.8％,P ＜0.05).K-ras기인돌변중단개위점돌변솔위35.4％,2개위점적돌변솔위2.2％,3개위점돌변솔위0.2％.K-ras돌변상견우12화13위밀마자,12위밀마자점32.0％,분별위G12D(15.0％)、G12V(9.5％)、G12C(3.9％)、G12S (2.9％)、G12A(2.4％)화G12R (0.7％),13위밀마자점6.1％,균위G13D.K-ras기인돌변방식이G→A위주.Ⅰ+Ⅱ기결직장암K-ras기인돌변솔(30.4％)저우Ⅲ+Ⅳ기(45.2％,P＜0.05),기인위점돌변분석지발현G12V돌변솔재TNM분기Ⅰ+Ⅱ기적돌변솔(5.9％)저우Ⅲ+Ⅳ기(13.0％,P＜0.05).K-ras기인돌변여성별、년령、종류대소、종류대체류형、조직학분형이급림파결전이등림상병리삼수무관(P＞0.05).결직장암중BRAFV600E기인돌변솔위2.4％,기중결장암중적BRAF기인적돌변솔(4.9％)고우직장암(0.4％,P＜0.05).결론 재결직장암중,K-ras기인돌변이단개위점돌변위주,기중우이G12D최위상견,기중G12V돌변가능여결직장암진전상관.직장암K-ras돌변솔고우결장암,이결장암BRAF돌변솔고우직장암.K-ras、BRAF기인돌변재결장암화직장암중적작용궤제가능불동.
Objective To investigate mutations of K-ras and v-raf murine sarcoma viral oncogene homolog B1 (BRAF) genes in colorectal cancer and their clinical significance.Methods 412 cases of colorectal cancer tissue specimens were selected.Real-time quantitative polymerase chain reaction (Real-time PCR) was used to study the characteristics of K-ras and BRAF gene mutation sites and their relationship with clinicopathologic parameters.Results In 412 cases,the mutation rate of K-ras gene was 37.9％.The K-ras mutation rate in rectal cancer (45.2％) was higher than in colon cancer (28.8％,P＜0.05).The rate of single locus mutation was 35.4％,while the rate of double locus mutation was 2.2％ and the rate of triple locus mutation was 0.2％.The K-ras mutation was most commonly located in codons 12 and 13,in which the rate of codon 12 was 32.0％.The mutation patterns of codon 12 included G12D (15.0％),G12V (9.5％),G12C (3.9％),G12S (2.9％),G12A (2.4％) and G12R (0.7％).The mutation pattern of thre codon 13 was G13D (6.1％).G→A was the most common mutation pattern.The K-ras gene mutation rate of Ⅰ + Ⅱ stage (30.4％) was lower than that of Ⅲ + Ⅳ stage (45.2％),with statistically significant difference (P ＜0.05).Further analysis showed the mutation rate (5.9％) of G12V in TNM stage Ⅰ + Ⅱ was lower than that in stage Ⅲ + Ⅳ (13.0％,P ＜ 0.05).The K-ras mutation was irrelevant to gender,age,tumor size,clinical tumor type,histological classification and lymphatic metastasis.The BRAFV600E mutation rate of colorectal cancer was 2.4％,and that of colon cancer (4.9％) was higher than rectal cancer (0.4％),with statistically significant difference (P ＜ 0.05).Conclusion In colorectal cancer,single locus mutation is most common in K-ras mutation,in which G12D was the main pattern.The mutation status of the G12V can probably promote the progresssion of colorectal cancer.The K-ras mutation rate in rectal cancer was higher than in colon cancer,while the BRAF mutation rate in colon cancer was higher than in rectal cancer.The mechanisms of K-ras and BRAF mutation in colon and rectal cancers may be different.
