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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.

DOI:10.1007/s11033-013-2722-0
PMID:24078161
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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本文引用的文献

1
Lynch syndrome in Tunisia: first description of clinical features and germline mutations.突尼斯林奇综合征:临床特征和种系突变的首次描述。
Int J Colorectal Dis. 2011 Apr;26(4):455-67. doi: 10.1007/s00384-010-1129-9. Epub 2011 Feb 11.
2
Molecular analysis of colorectal cancer tumors from patients with mismatch repair proficient hereditary nonpolyposis colorectal cancer suggests novel carcinogenic pathways.错配修复功能正常的遗传性非息肉病性结直肠癌患者的结直肠癌肿瘤分子分析提示了新的致癌途径。
Clin Cancer Res. 2007 Oct 1;13(19):5729-35. doi: 10.1158/1078-0432.CCR-06-2996.
3
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.
通路突变作为中东地区结直肠癌的预测性生物标志物:一项系统评价
Clin Med Insights Oncol. 2024 May 25;18:11795549241255651. doi: 10.1177/11795549241255651. eCollection 2024.
4
Correlation between KRAS and NRAS mutational status and clinicopathological features in 414 cases of metastatic colorectal cancer in Morocco: the largest North African case series.摩洛哥 414 例转移性结直肠癌 KRAS 和 NRAS 突变状态与临床病理特征的相关性:最大的北非病例系列。
BMC Gastroenterol. 2023 Jun 5;23(1):193. doi: 10.1186/s12876-023-02694-7.
5
Clinical Significance of Somatic Mutations in RAS/RAF/MAPK Signaling Pathway in Moroccan and North African Colorectal Cancer Patients.摩洛哥和北非结直肠癌患者 RAS/RAF/MAPK 信号通路中体细胞突变的临床意义。
Asian Pac J Cancer Prev. 2022 Nov 1;23(11):3725-3733. doi: 10.31557/APJCP.2022.23.11.3725.
6
Prevalence and patterns of mutations in RAS/RAF/MEK/ERK/MAPK signaling pathway in colorectal cancer in North Africa.北非结直肠癌中 RAS/RAF/MEK/ERK/MAPK 信号通路突变的流行率和模式。
BMC Cancer. 2022 Nov 7;22(1):1142. doi: 10.1186/s12885-022-10235-w.
7
KRAS mutations in patients with colorectal cancer in Libya.利比亚结直肠癌患者中的KRAS突变
Mol Clin Oncol. 2021 Oct;15(4):197. doi: 10.3892/mco.2021.2359. Epub 2021 Jul 30.
8
Signal transduction pathway mutations in gastrointestinal (GI) cancers: a systematic review and meta-analysis.胃肠道(GI)癌症中的信号转导通路突变:系统评价和荟萃分析。
Sci Rep. 2020 Oct 30;10(1):18713. doi: 10.1038/s41598-020-73770-1.
9
Clinicopathological characteristics and mutational profile of KRAS and NRAS in Tunisian patients with sporadic colorectal cancer.突尼斯散发性结直肠癌患者 KRAS 和 NRAS 的临床病理特征和突变谱。
Turk J Med Sci. 2021 Feb 26;51(1):148-158. doi: 10.3906/sag-2003-42.
10
KRAS and NRAS pyrosequencing screening in Tunisian colorectal cancer patients in 2015.2015年突尼斯结直肠癌患者的KRAS和NRAS焦磷酸测序筛查
Heliyon. 2019 Mar 19;5(3):e01330. doi: 10.1016/j.heliyon.2019.e01330. eCollection 2019 Mar.
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Hum Mol Genet. 2004 Oct 1;13(19):2303-11. doi: 10.1093/hmg/ddh238. Epub 2004 Aug 4.
4
Testing guidelines for hereditary non-polyposis colorectal cancer.遗传性非息肉病性结直肠癌检测指南
Nat Rev Cancer. 2004 Feb;4(2):153-8. doi: 10.1038/nrc1278.
5
Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR.使用五个准单态单核苷酸重复序列和五重PCR评估肿瘤微卫星不稳定性。
Gastroenterology. 2002 Dec;123(6):1804-11. doi: 10.1053/gast.2002.37070.
6
Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia.结直肠肿瘤中与BRAF和KRAS突变相关的表型模式的相似性。
Cancer Res. 2002 Nov 15;62(22):6451-5.
7
Mutations in APC, Kirsten-ras, and p53--alternative genetic pathways to colorectal cancer.腺瘤性息肉病基因(APC)、 Kirsten 鼠肉瘤病毒癌基因(Kirsten-ras)和p53基因的突变——结直肠癌的其他遗传途径。
Proc Natl Acad Sci U S A. 2002 Jul 9;99(14):9433-8. doi: 10.1073/pnas.122612899. Epub 2002 Jul 1.
8
Promoter hypermethylation of the DNA repair gene O(6)-methylguanine-DNA methyltransferase is associated with the presence of G:C to A:T transition mutations in p53 in human colorectal tumorigenesis.DNA修复基因O(6)-甲基鸟嘌呤-DNA甲基转移酶的启动子高甲基化与人类结直肠癌发生过程中p53基因中G:C到A:T转换突变的存在相关。
Cancer Res. 2001 Jun 15;61(12):4689-92.
9
Inverse relationship between microsatellite instability and K-ras and p53 gene alterations in colon cancer.结肠癌中微卫星不稳定性与K-ras和p53基因改变之间的负相关关系。
Am J Pathol. 2001 Apr;158(4):1517-24. doi: 10.1016/S0002-9440(10)64102-8.
10
Inactivation of the DNA repair gene O6-methylguanine-DNA methyltransferase by promoter hypermethylation is associated with G to A mutations in K-ras in colorectal tumorigenesis.DNA修复基因O6-甲基鸟嘌呤-DNA甲基转移酶因启动子高甲基化而失活,这与结直肠癌发生过程中K-ras基因从G到A的突变有关。
Cancer Res. 2000 May 1;60(9):2368-71.