Cavic Milena, Nikolic Neda, Marinkovic Mladen, Damjanovic Ana, Krivokuca Ana, Tanic Miljana, Radulovic Marko, Stanojevic Aleksandra, Pejnovic Luka, Djordjic Crnogorac Marija, Djuric Ana, Vukovic Miodrag, Stevanovic Vanja, Kijac Jelena, Karadzic Valentina, Nikolic Srdjan, Stojanovic-Rundic Suzana, Jankovic Radmila, Spasic Jelena
Department of Experimental Oncology, Institute for Oncology and Radiology of Serbia, 11000 Belgrade, Serbia.
Clinic for Medical Oncology, Institute for Oncology and Radiology of Serbia, 11000 Belgrade, Serbia.
Biomedicines. 2024 Oct 8;12(10):2278. doi: 10.3390/biomedicines12102278.
It is projected that, by 2040, the number of new cases of colorectal cancer (CRC) will increase to 3.2 million, and the number of deaths to 1.6 million, highlighting the need for prevention strategies, early detection and adequate follow-up. In this study, we aimed to provide an overview of the progress in personalized medicine of CRC in Serbia, with results and insights from the Institute for Oncology and Radiology of Serbia (IORS), and to propose guidance for tackling observed challenges in the future.
Epidemiological data were derived from official global and national cancer registries and IORS electronic medical records. Germline genetic testing for Lynch syndrome was performed by Next Generation Sequencing. and mutation analyses were performed using qPCR diagnostic kits.
Epidemiology and risk factors, prevention and early detection programs, as well as treatment options and scientific advances have been described in detail. Out of 103 patients who underwent germline testing for Lynch syndrome, 19 (18.4%) showed a mutation in MMR genes with pathogenic or likely pathogenic significance and 8 (7.8%) in other CRC-associated genes (, , ). Of 6369 tested patients, 50.43% had a mutation in or genes, while 9.54% had the V600 mutation in the BRAF gene.
Although significant improvements in CRC management have occurred globally in recent years, a strategic approach leading to population-based systemic solutions is required. The high incidence of young-onset CRC and the growing elderly population due to a rise in life expectancy will be especially important factors for countries with limited healthcare resources like Serbia.
据预测，到2040年，结直肠癌（CRC）的新发病例数将增至320万，死亡人数将达160万，这凸显了预防策略、早期检测和充分随访的必要性。在本研究中，我们旨在概述塞尔维亚CRC个性化医疗的进展，介绍塞尔维亚肿瘤与放射学研究所（IORS）的结果和见解，并为应对未来观察到的挑战提出指导意见。
流行病学数据来自官方全球和国家癌症登记处以及IORS电子病历。林奇综合征的胚系基因检测通过下一代测序进行。 以及 使用qPCR诊断试剂盒进行突变分析。
已详细描述了流行病学和危险因素、预防和早期检测计划以及治疗选择和科学进展。在103例接受林奇综合征胚系检测的患者中，19例（18.4%）显示错配修复（MMR）基因发生具有致病或可能致病意义的突变，8例（7.8%）在其他CRC相关基因（ 、 、 ）中发生突变。在6369例检测患者中，50.43%的患者在 或 基因中发生突变，而9.54%的患者在BRAF基因中发生V600突变。
尽管近年来全球在CRC管理方面取得了显著进展，但仍需要一种基于人群的系统性解决方案的战略方法。对于像塞尔维亚这样医疗资源有限的国家来说，年轻发病CRC的高发病率以及由于预期寿命延长导致的老年人口增加将是特别重要的因素。
