Roa Iván, Sánchez Tamara, Majlis Alejandro, Schalper Kurt
Rev Med Chil. 2013 Sep;141(9):1166-72. doi: 10.4067/S0034-98872013000900009.
KRAS oncogene is involved in colorectal carcinogenesis in 22 to 45% of cases.
To determine the frequency, types and distribution of KRAS mutations in colorectal cancer.
KRAS mutations studies were carried out in primary tumors and metastases of colo-rectal cancer from 56 women aged 60 ± 14 years and 53 men aged 61 ± 11 years. Formalin fixed and paraffin embedded tissue samples were evaluated using RFLP (Restriction Fragment Length Polymorphism) and direct sequencing.
Primary tumors were located in the colon and rectum in 82 (75.2%) and 24 cases (20%), respectively. In three cases the extraction site of the tumor sample was unknown. In 46 cases (42.2%) KRAS mutations were demonstrated. The main point mutations were located in codon 12 (80.4%), G12D (39.1%), G12V (24.2%), G12S (6.5%), G12A (4.3%); G12C (4.3%), G12R (2.1%) and 19.6% at codon 13 (G13D). No differences were demonstrated in the frequency and distribution of mutations by gender, age, primary versus metastatic tumors or tumor location.
In this series, 42% of colorectal cancer tissue samples had KRAS mutations. Their frequency and distribution are similar to those reported in the literature, except for G12C mutation.
KRAS癌基因在22%至45%的结直肠癌病例中参与致癌过程。
确定结直肠癌中KRAS突变的频率、类型和分布。
对56名年龄为60±14岁的女性和53名年龄为61±11岁的男性的结直肠癌原发肿瘤和转移灶进行KRAS突变研究。使用限制性片段长度多态性(RFLP)和直接测序对福尔马林固定石蜡包埋的组织样本进行评估。
原发肿瘤分别位于结肠82例(75.2%)和直肠24例(20%)。3例肿瘤样本的取材部位不明。46例(42.2%)显示有KRAS突变。主要点突变位于密码子12(80.4%),G12D(39.1%),G12V(24.2%),G12S(6.5%),G12A(4.3%);G12C(4.3%),G12R(2.1%),密码子13(G13D)处为19.6%。在突变的频率和分布上,未显示出性别、年龄、原发肿瘤与转移瘤或肿瘤部位之间存在差异。
在本系列研究中,42%的结直肠癌组织样本存在KRAS突变。除G12C突变外,其频率和分布与文献报道相似。