Rendek Tomas, Saade Rami, Pos Ondrej, Kolnikova Georgina, Urbanova Monika, Budis Jaroslav, Mihok Luboslav, Tomas Miroslav, Szemes Tomas, Repiska Vanda
Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, 811 08 Bratislava, Slovakia.
2nd Department of Gynaecology and Obstetrics, Faculty of Medicine, Comenius University, 811 08 Bratislava, Slovakia.
Cancers (Basel). 2024 Mar 12;16(6):1128. doi: 10.3390/cancers16061128.
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.
在发达国家中，斯洛伐克的结直肠癌发病率位居前列，在全球男性中该疾病的发病率排名第二。尽管这种疾病给生活质量和医疗系统带来了巨大负担，但关于结直肠癌确诊患者生物标志物分子分析的数据却很匮乏。在我们的研究中，我们分析了来自国家癌症研究所（NCI）数据库中确诊的结直肠癌患者，并评估了肿瘤组织中4种生物标志物的存在情况。总共对NCI数据库中列出的83例结直肠癌患者的福尔马林固定石蜡包埋（FFPE）肿瘤组织进行了微卫星不稳定性状态、BRAF和KRAS/NRAS突变的存在情况以及组织样本中肿瘤细胞百分比的分析。我们鉴定出4个微卫星高度不稳定（MSI-high）样本、39个KRAS/NRAS突变和5个BRAF p.V600E突变，其中有一个肿瘤样本中这三种标志物同时存在。我们还评估了生物标志物之间、它们的共存情况以及所研究人群的年龄和性别之间可能存在的关系。
