二皮里米丁酶活性及其对化疗毒性的影响:基因检测的重要性
Alexia Shamaei Zadeh1, Danielle Roberts2, Abby Williams3,4
1College of Medicine, University of Kentucky, Lexington, KY, USA.
Cancer chemotherapy and pharmacology
|January 18, 2025
概括
在甲化疗期间,二皮利米丁脱酶 (DPD) 缺乏会造成危及生命的风险. 早期尿液三酸盐治疗至关重要,DPD测试应该是癌症护理的标准,通常可以通过瘤下一代测序获得.
科学领域:
- 在瘤学瘤学.
- 药物基因组学 药物基因组学
- 医学遗传学 医学遗传学
背景情况:
- 二皮里米丁脱酶 (DPD) 缺乏会损害甲的代谢,增加毒性风险.
- 广泛使用的化疗药物卡佩奇他是通过DPD代谢成甲.
- 在癌症患者中,DPD缺乏会导致严重的,可能致命的不良事件.
研究的目的:
- 要突出DPD缺乏症在接受capecitabine治疗的患者的临床影响.
- 讨论尿素三酸盐治疗DPD缺乏症的适当性.
- 倡导在癌症治疗中进行标准化DPD缺陷测试.
主要方法:
- 一个43岁的男性患有直肠腺癌,接受了capecitabine的病例报告.
- 临床表现为严重的中性质减退,血小板减退,恶心,吐和腹.
- 对DPYD*2A突变的基因检测和尿素三酸盐治疗的启动.
主要成果:
- 患者患有4级中性质衰竭和血小板衰竭.
- 尽管迅速进行了尿液三酸盐治疗,但患者因传染性并发症而死亡.
- 基因检测证实了异构DPYD*2A突变,表明DPD缺乏.
结论:
- 目前在5-FU化疗前的DPD测试指南不一致.
- 尿素三酸是一种适合治疗与DPD缺乏相关的毒性.
- 生殖线DPD缺陷状态可以通过瘤下一代测序 (NGS) 偶然识别.
- DPD测试应该成为治疗癌症治疗的标准,利用NGS分析的进步.
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