文章：

斯洛伐克结直肠癌患者微卫星不稳定性、BRAF及KRAS/NRAS基因突变状态的流行病学调查

Determination of the Prevalence of Microsatellite Instability,BRAFandKRAS/NRASMutation Status in Patients with Colorectal Cancer in Slovakia

原文发布日期：12 March 2024

DOI: 10.3390/cancers16061128

类型: Article

开放获取: 是

英文摘要：

Slovakia has one of the highest rates of colorectal cancer among the developed countries, ranking as the second highest in the incidence of this disease for men worldwide. Despite the significant burden on both quality of life and the healthcare system this disease imposes, data on molecular analysis of biomarkers in CRC-diagnosed patients is scarce. In our study, we analyzed confirmed CRC patients from the database of the National Cancer Institute (NCI) and evaluated the presence of 4 biomarkers in tumor tissues. Altogether, 83 FFPE tumor tissues from CRC patients listed in the NCI database were analyzed for microsatellite instability status, presence of BRAF and KRAS/NRAS mutations, and neoplastic cell percentage in tissue samples. We identified 4 MSI-high samples, 39 KRAS/NRAS mutations, and 5 BRAF p.V600E mutations, with one case of coexistence of all three markers in a single tumor sample. We also evaluated possible relationships between biomarkers, their coexistence, and the age and sex of the studied population.

摘要翻译： 

斯洛伐克是发达国家中结直肠癌发病率最高的国家之一，男性发病率位居全球第二。尽管该疾病对生活质量和医疗系统造成沉重负担，但关于结直肠癌确诊患者生物标志物分子分析的数据却十分匮乏。本研究基于国家癌症研究所（NCI）数据库中的确诊结直肠癌患者，评估了肿瘤组织中四种生物标志物的存在情况。我们对NCI数据库中83例结直肠癌患者的福尔马林固定石蜡包埋肿瘤组织进行了分析，检测内容包括微卫星不稳定性状态、BRAF及KRAS/NRAS基因突变情况以及组织样本中肿瘤细胞百分比。结果显示：4例样本呈高度微卫星不稳定，39例存在KRAS/NRAS突变，5例检出BRAF p.V600E突变，其中1例肿瘤样本同时存在三种标志物。我们还评估了生物标志物之间及其共存情况与患者年龄、性别可能存在的关联性。

原文链接：

Determination of the Prevalence of Microsatellite Instability,BRAFandKRAS/NRASMutation Status in Patients with Colorectal Cancer in Slovakia