KRAS、BRAF及PIK3CA基因突变与转移性结直肠癌的关系

 为了联合检测并分析KRAS、BRAF和PIK3CA突变与临床病理指标之间的关系,探讨基因突变在结直肠癌(CRC)发生、发展中的生物学意义,收集第四军医大学西京消化病医院及兰州军区兰州总医院2008—2009年入院治疗的150例结直肠癌患者的癌组织标本,提取DNA行PCR扩增后,采用焦磷酸测序法联合检测KRAS、BRAF及PIK3CA基因的突变率,统计分析基因突变与患者临床病理(包括患者的年龄、性别、肿瘤位置、Dukes'分期、TNM分期、组织病理学分型及转移)之间的关系。结果表明,在150例患者中,KRAS突变率为32%(48/150),BRAF突变率为8%(12/150),PIK3CA突变突变率为12%(18/150),其中9号外显子突变率为6%(9/150),20号外显子突变率为6%(9/150)。KRAS和PIK3CA的突变与患者的Dukes'分期关系密切,KRAS、BRAF和PIK3CA的突变与CRC患者的年龄、性别、肿瘤位置、组织病理学分型之间无明显的关系。

Relationship between KRAS, BRAF' and PIK3CA Mutations and Metastatic Colorectal Cancer

In order to investigate the molecular occurrence of KRAS, BRAF, and PIK3CA mutations in the colorectal cancer patients and to study the association of these events with clinicopathological parameters. Two hundred paraffn-embedded tumor specimens were collected from 150 colorectal cancer patients who underwent resection of primary tumors at Xijing Hospital of Digestive Diseases and General Hospital of Lanzhou Military Region of PLA from the year of 2008 to 2009. The DNAs are extracted from 200 cases of human colorectal cancer tissue samples. KRAS, BRAF, and PIK3CA mutations analysis is performed by PCR and pyrosequencing. Using statistical methods, the relationships between the gene mutations and clinicopathological parameters are analyzed. The KRAS point mutation rate is 32% (48/150); The V600e mutation rate of BRAF is 8% (12/150); PIK3CA point mutation rate is 12% (18/150), among them, exon 9 mutation rate is 6% (9/150) and exon 20 mutation rate is 6% (9/150). The study indicates that the mutational status of BRAF is not correlated with Dukes' staging, histological type, age, and gender of patients. However, strong connections are found between KRAS, PIK3CA mutations and Dukes' staging (staging D, 48% (9/150)).