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罗马尼亚结直肠癌患者的基因谱分析与生存结果

Genetic Profiling and Survival Outcomes in Romanian Colorectal Cancer Patients.

作者信息

Vesa Alexandra, Maghiar Octavian, Pop Ovidiu, Boros Monica, Pascalau Andrei, Molnar Otto, Maghiar Adrian

机构信息

Morphological Sciences, University of Oradea, Faculty of Medicine and Pharmacy, Oradea, ROU.

Surgical Sciences, University of Oradea, Faculty of Medicine and Pharmacy, Oradea, ROU.

出版信息

Cureus. 2024 Jun 14;16(6):e62390. doi: 10.7759/cureus.62390. eCollection 2024 Jun.

DOI:10.7759/cureus.62390
PMID:39006576
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11246764/
Abstract

BACKGROUND

The increasing incidence of colorectal cancer is one of the most frequently addressed medical topics worldwide. It represents the third most commonly diagnosed cancer in both men and women globally, with significant implications for public health. Mortality for this type of malignancy remains high, second only to lung cancer. Given their clinical relevance, the identification and understanding of KRAS and BRAF mutations have become crucial components of personalized medicine approaches in colorectal cancer. Hence, our desire is to carry out a research that analyzes the impact of these mutations in terms of survival and mortality on patients diagnosed with colorectal cancer.

METHODS

We conducted a retrospective study spanning from 2018 to 2022, which involved 118 patients diagnosed with colorectal cancer. The patients were selected from the databases of the Oradea County Emergency Clinical Hospital and Pelican Oradea Hospital. Genetic testing was performed at the "Resident Laboratory" clinic. Subsequently, patients were divided into two groups of equal size based on the presence or absence of mutations.

RESULTS

The survival rate one year after the diagnosis of colorectal cancer is 84.74% (N=50/59) for the mutant group versus 67.96% (N=40/59) for the wild-type group. The survival rate at five years from the diagnosis of colorectal cancer is 25.93% (N=15/59) for patients with wild-type tumors compared to 33.54% (N=20/59) for patients with tumors with mutant status (p=0.483, HR=1.153, CI 95% 0.7661-1.735). The five-year survival rate, depending on the mutation present, highlights the fact that the average overall survival for those with the KRAS mutation is 38.6 months (CI 95% 35.22-41.97) and for those with the BRAF mutation is 8.3 months (CI 95% 5.42-11.17) (p=0.039). The mortality rate for mutant KRAS is 44.89% (N=22/50), while for those with mutant BRAF, it is 100% (N=6/6).

CONCLUSIONS

We observed no statistically significant difference in overall survival rate and disease-free interval between the two studied groups, but the overall survival was better for those with mutations present (38.64 months versus 31.07 months for wild-type tumors). The mortality rate is higher among tumors with wild-type status (p=0.005), in the first year after the diagnosis of colorectal cancer. The BRAF mutation confers a much worse prognosis than the KRAS mutation, from both the survival analysis and the mortality rate.

摘要

背景

结直肠癌发病率的上升是全球最常被提及的医学话题之一。它是全球男性和女性中第三大最常被诊断出的癌症,对公众健康有重大影响。这种恶性肿瘤的死亡率仍然很高,仅次于肺癌。鉴于其临床相关性,KRAS和BRAF突变的识别和理解已成为结直肠癌个性化医疗方法的关键组成部分。因此,我们希望开展一项研究,分析这些突变对结直肠癌患者生存和死亡率的影响。

方法

我们进行了一项回顾性研究,时间跨度为2018年至2022年,涉及118例被诊断为结直肠癌的患者。这些患者是从奥拉迪亚县急诊临床医院和奥拉迪亚鹈鹕医院的数据库中挑选出来的。基因检测在“住院实验室”诊所进行。随后,根据是否存在突变将患者分为两组,每组人数相等。

结果

结直肠癌诊断后一年,突变组的生存率为84.74%(N = 50/59),而野生型组为67.96%(N = 40/59)。野生型肿瘤患者结直肠癌诊断后五年的生存率为25.93%(N = 15/59),而突变状态肿瘤患者为33.54%(N = 20/59)(p = 0.483,HR = 1.153,95%CI 0.7661 - 1.735)。根据存在的突变情况,五年生存率突出了这样一个事实,即KRAS突变患者的平均总生存期为38.6个月(95%CI 35.22 - 41.97),BRAF突变患者为8.3个月(95%CI 5.42 - 11.17)(p = 0.039)。KRAS突变的死亡率为44.89%(N = 22/50),而BRAF突变的死亡率为100%(N = 6/6)。

结论

我们观察到两个研究组在总生存率和无病间期方面没有统计学上的显著差异,但有突变的患者总生存期更好(野生型肿瘤为31.07个月,有突变的患者为38.64个月)。在结直肠癌诊断后的第一年,野生型状态的肿瘤死亡率更高(p = 0.005)。从生存分析和死亡率来看,BRAF突变的预后比KRAS突变差得多。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93e6/11246764/509a9ad42eaf/cureus-0016-00000062390-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93e6/11246764/1154f32dd81c/cureus-0016-00000062390-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93e6/11246764/71a4e962c15a/cureus-0016-00000062390-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93e6/11246764/31d150e912d2/cureus-0016-00000062390-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93e6/11246764/9db48cf72f8d/cureus-0016-00000062390-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93e6/11246764/c40512c2c8fa/cureus-0016-00000062390-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93e6/11246764/509a9ad42eaf/cureus-0016-00000062390-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93e6/11246764/1154f32dd81c/cureus-0016-00000062390-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93e6/11246764/71a4e962c15a/cureus-0016-00000062390-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93e6/11246764/31d150e912d2/cureus-0016-00000062390-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93e6/11246764/9db48cf72f8d/cureus-0016-00000062390-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93e6/11246764/c40512c2c8fa/cureus-0016-00000062390-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93e6/11246764/509a9ad42eaf/cureus-0016-00000062390-i06.jpg

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High tumor mutation burden indicates better prognosis in colorectal cancer patients with mutations.
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