结直肠癌与基因突变之间的临床病理相关性

Alexandra-Alina Vesa, O. Maghiar, Ovidiu Pop, Monica Boros, A. Paşcalău, Adrian Maghiar
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摘要

目的。结直肠癌是一种肿瘤病理,不幸的是,近年来发病率有所上升。结直肠癌中的 KRAS 和 BRAF 基因突变具有重要的临床意义。因此,我们希望开展研究,分析这些突变对确诊结直肠癌患者的影响,并观察突变型肿瘤和野生型肿瘤在临床病理学上的差异。材料和方法。我们在 2018-2022 年期间进行了一项回顾性研究,包括 118 名确诊为结直肠癌的患者。随后,根据是否存在突变,将患者分为人数相等的两组。结果。在对数据进行分析后,我们发现了两组患者在组织病理学类型(突变型肿瘤为粘液性)、局部淋巴结浸润程度(突变型组N+病例较多)、原发肿瘤位置(突变型肿瘤为右侧结肠,野生型组为直肠乙状结肠)、继发肿瘤位置(突变型组肺部肿瘤发病率为野生型组的三倍)等方面的一些差异。最后得出结论。对基因突变及其在结直肠癌中作用的研究为了解这种复杂疾病的潜在机制提供了宝贵的见解。这是一个不断发展的领域,有望对患者护理产生深远影响,最终引导我们为结直肠癌患者提供更有效的预防、早期检测和个性化疗法。通过利用基因信息,临床医生可以优化治疗方案,最大限度地减少副作用,并增加患者获得成功的机会。
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Clinicopathological correlations between colorectal cancer and genetic mutations
Objective. Colorectal cancer is an oncological pathology that, unfortunately, has increased in terms of incidence in recent years. The presence of KRAS and BRAF mutations in colorectal cancer has significant clinical implications. As a result we want to conduct research that analyzes the impact of these mutations on patients diagnosed with colorectal cancer and also to observe the clinicopathological differences between mutant and wild-type tumors. Material and methods. We conducted a retrospective study in the period 2018-2022, including 118 patients diagnosed with colorectal cancer. The patients were subsequently divided into two groups equal in number of patients, depending on the presence or absence of mutations. Outcomes. After analyzing the data we were able to identify several differences between the two groups, regarding the histopathological type - mucinous correlated with the mutant tumors, the degree of infiltration of the locoregional lymph nodes (more N+ cases in the mutant group), the location of the primary tumor (right colon within the mutant tumors, the rectosigmoid region in the wild-type group), the location of secondary tumors (pulmonary ones with a triple incidence in the mutant group). Conclusions. The study of genetic mutations and their role in colorectal cancer has provided valuable insights into the underlying mechanisms of this complex disease. It is an ever-evolving field that promises to have a profound impact on patient care, ultimately leading us toward more effective prevention, early detection, and personalized therapies for colorectal cancer patients. By leveraging genetic information, clinicians can optimize treatment plans, minimize side effects, and increase the chances of successful outcomes for individual patients.
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