结直肠癌的分子和遗传特征:临床病例的病理形态学证明和文献复习

I. Shpon'ka, O. Bondarenko, I. Molokova
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摘要

背景。结直肠癌(CRC)是世界范围内最广泛的恶性肿瘤之一;其发病率在最常见的癌症中排名第三。目前资料显示,CyD1、HIF1α、LC3B、p21、p53等分子标记物及KRAS基因扩增检测可用于评价肿瘤分级、侵袭性、转移风险、对抗egfr治疗的敏感性,进而判断患者的生存预后。目标。本研究的目的是对CRC分子诊断方法的文献进行综述,并对第聂伯市地区5例结直肠癌患者进行分析,以揭示其分子遗传学特征。方法。采用组织学、免疫组织化学和荧光原位杂交等方法对5例丹参地区结直肠癌标本进行病理形态学评价。结果。病例研究显示p53、p21和LC3B表达水平升高,CyD1和HIF1α表达轻微升高。未发现KRAS基因扩增。结论。我们的数据分析揭示了多个致力于CRC分子诊断的研究,结果存在争议,这可以用全球不同地区CRC的不同方法学方法和流行病学特性来解释。因此,有必要对我们地区结直肠癌患者的分子遗传学特征进行实证鉴定,以提高目前CRC诊断和治疗方法的水平。获得的数据是试验的结果,我们对这个问题的研究还在进行中。
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Molecular and genetic features of colorectal carcinoma: pathomorphological demonstration of clinical cases and literature review
Background. Colorectal carcinoma (CRC) is one of the most widespread malignancies worldwide; its morbidity rate is on the third place amidst the most common cancers. According to present data, such molecular markers as CyD1, HIF1α, LC3B, p21, p53 as well as the detection of KRAS gene amplification could be used for evaluation of tumor grade, its invasiveness, risk of metastases, sensitivity to anti-EGFR treatment, and further prognosis for patient’s survive. Objective. The purpose of this study was to make a literature review of the CRC molecular diagnostic approaches and demonstrate 5 cases of colorectal carcinoma in patients of Dnipro-city region in purpose to reveal their molecular-genetic features. Methods. Five formalin fixed paraffin embedded specimens of colorectal carcinoma from patients of Dnipro-city region were evaluated pathomorphologically with histological, immunohistochemical and fluorescence in situ hybridization methods. Results. Case study revealed increased level of p53, p21, and LC3B expression, minor elevation of CyD1 and HIF1α expression in demonstrated samples. Amplification of KRAS gene was not found. Conclusion. Our data analysis had revealed multiple studies dedicated to CRC molecular diagnostics with controversial results, what could be explained by both variable methodological approaches and epidemiological peculiarities of CRC in different sites of the globe. Therefore, there is a necessity in empirical identification of the molecular-genetic features of colorectal carcinomas in patients of our region that could improve current state of the art in CRC diagnostic and treatment approaches. Achieved data are the result of the trial and our research of this issue is ongoing.
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