丹麦BRAF和KRAS基因测试的时间趋势和区域变异 (2010-2022):对精准医学的影响
Matilde Grupe Frost1,2,3, Kristoffer Jarlov Jensen2, Espen Jimenez-Solem1,2,3
1Department of Clinical Pharmacology, Copenhagen University Hospital Bispebjerg, Copenhagen, Denmark.
Genes, chromosomes & cancer
|April 24, 2024
概括
在丹麦,基尔斯鼠肉瘤病毒性瘤基因同源 (KRAS) 和v-Raf小鼠肉瘤病毒性瘤基因同源B1 (BRAF) 突变测试的进展显示出进展,但区域差异仍然存在. 增加测试和报告可以提高癌症诊断和治疗的准确性.
科学领域:
- 在瘤学瘤学.
- 分子诊断学 分子诊断
- 癌症基因组学 癌症基因组学
背景情况:
- KRAS和BRAF突变是几种癌症的关键驱动因素,影响治疗决策.
- 对这些突变的分子测试已经成为个性化癌症治疗的关键.
- 了解突变测试的情况对于优化癌症护理策略至关重要.
研究的目的:
- 为了评估基尔斯大鼠肉瘤病毒性瘤基因同源 (KRAS) 和v-Raf小鼠肉瘤病毒性瘤基因同源B1 (BRAF) 突变测试在丹麦2010年至2022年的演变.
- 评估不同类型癌症中KRAS和BRAF测试的频率,分布和区域变异.
- 识别随着时间的推移测试率和突变亚型报告的趋势.
主要方法:
- 利用来自丹麦卫生登记处的数据,将分子测试结果 (丹麦病理学登记处) 与癌症诊断 (丹麦国家患者登记处) 联系起来.
- 分析了30671名KRAS测试患者和30860名BRAF测试患者的记录.
- 检查的突变检测频率,按癌症类型和区域的分布,以及时间趋势.
主要成果:
- KRAS测试主要用于结直肠癌 (78%) 和肺癌 (18%);BRAF测试用于恶性黑色素瘤 (13%),结直肠癌 (67%) 和肺癌 (12%).
- 从2010年到2022年,突变亚型的测试率和文档显著增加.
- 观察到报告野生型结果的变化 (肺癌报告不足) 和测试和报告的区域差异.
结论:
- 丹麦KRAS和BRAF测试取得了实质性进展,癌症诊断和治疗的精度提高.
- 持续的区域差异和主要癌症类型以外的有限测试需要在全国范围内评估最佳测试策略.
- 这些发现强调了标准化和全面的分子测试对于指导癌症治疗的重要性.
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