摘要5-氟尿嘧啶(5-Fu)目前已成为结直肠癌辅助化疗的首选药物,80％以上的5-Fu都是由二氢嘧啶脱氢酶(DPD)代谢降解的.当编码DPD的基因即DPYD基因突变导致DPD部分或完全缺陷时,可引起5-Fu不良反应,包括腹泻、口腔炎、手足综合征及神经毒性等.文章就DPYD基因变异的研究背景、研究现状及对临床的指导意义作一综述.

abstracts5-fluorouracil (5-Fu) as the most common adjuvant chemotherapy has been widely used for patients with colorectal cancer.As reported dihydropyrimidine dehydrogenase (DPD) has been known as an initial rate-limiting enzyme to catalyze approximately 80 ％ of administered dose of 5-Fu.However,patients with a partial or complete DPD deficiency because of the mutation of DPYD gene may suffer from diarrhea,stomatitis,hand-foot syndrome or neurotoxicity and even death.In this article,the application of DPYD gene screening in patients with colorectal cancer of current status and recent clinical application are reviewed.