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突尼斯结直肠癌中的 KRAS 突变:与临床病理变量的关系以及 TP53 突变和微卫星不稳定性的数据。

KRAS mutations in colorectal cancer from Tunisia: relationships with clinicopathologic variables and data on TP53 mutations and microsatellite instability.

出版信息

Mol Biol Rep. 2013 Nov;40(11):6107-12. doi: 10.1007/s11033-013-2722-0.

Abstract

Mutations in KRAS gene are among the critical transforming alterations occurring during CRC tumorigenesis. Here we screened 51 primary CRC tumors from Tunisia for mutations in KRAS (codons 12 and 13) using PCR-direct sequencing. Our aim was to analyze tumor mutation frequencies and spectra in Tunisian patients with CRC. KRAS status and mutation site/type were than correlated with familial and clinicopathologic variables and data on TP53 mutations and nuclear protein accumulation and microsatellite instability (MSI). A KRAS somatic mutation has been detected in the CRC tumor of 31.5 % (16/51) of the patients. 81.2 % had a single mutation at codon 12 and 23 % had a single mutation at codon 13. The most common single mutation (50 %) was a G>A transition in codon 12 (c.35G>A; p.Gly12Asp). 81.25 % of the KRAS mutations were transitions and 23 % were transversions. All the mutations in codon 13 were a c.38G>A transition, whereas both G>A transitions and G>T and G>C transversions were found in codon 12. The mutation spectrum was different between MSS and MSI-H tumors and more varied mutations have been detected in MSS tumors. Some amino acid changes were detected only in MSS tumors, i.e. p.Gly12Ser, p.Gly12Cys and p.Gly12Ala. Whereas, the KRAS mutation p.Gly13Asp have been detected only in MSI-H. 43.75 % of the patients harboured combined mutations in KRAS and TP53 genes and the tumor of 71.42 % of them showed TP53 overexpression. In conclusion, the frequency and types of KRAS mutations were as reported for non-Tunisian patients. However, no significant associations have been detected between KRAS mutations and clinicopathologic variables and MSI in Tunisian patients as previously reported.

摘要

KRAS 基因突变是 CRC 肿瘤发生过程中的关键转化改变之一。在此,我们使用 PCR 直接测序法筛选了来自突尼斯的 51 例原发性 CRC 肿瘤中的 KRAS(密码子 12 和 13)突变。我们的目的是分析突尼斯 CRC 患者的肿瘤突变频率和谱。然后将 KRAS 状态和突变部位/类型与家族和临床病理变量以及 TP53 突变、核蛋白积累和微卫星不稳定性(MSI)的数据相关联。在 31.5%(16/51)的患者的 CRC 肿瘤中检测到 KRAS 体细胞突变。81.2%的患者在密码子 12 处发生单一突变,23%的患者在密码子 13 处发生单一突变。最常见的单一突变(50%)是密码子 12 中的 G>A 转换(c.35G>A;p.Gly12Asp)。81.25%的 KRAS 突变是转换,23%是颠换。密码子 13 中的所有突变均为 c.38G>A 转换,而密码子 12 中则既有 G>A 转换,也有 G>T 和 G>C 颠换。MSS 和 MSI-H 肿瘤的突变谱不同,MSS 肿瘤中检测到更多不同的突变。仅在 MSS 肿瘤中检测到一些氨基酸变化,即 p.Gly12Ser、p.Gly12Cys 和 p.Gly12Ala。而 KRAS 突变 p.Gly13Asp 仅在 MSI-H 中检测到。43.75%的患者同时携带 KRAS 和 TP53 基因突变,其中 71.42%的肿瘤表现为 TP53 过表达。总之,KRAS 突变的频率和类型与非突尼斯患者的报道一致。然而,与以前的报道相反,在突尼斯患者中,KRAS 突变与临床病理变量和 MSI 之间未检测到显著相关性。

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