Division of Clinical Pharmacology and Toxicology, The Hospital for Sick Children, 555 University Ave, Toronto, Ontario M5G 1X8, Canada.
Arch Dis Child. 2009 Dec;94(12):981-2. doi: 10.1136/adc.2009.163089. Epub 2009 Jul 15.
Genetic polymorphisms of uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1), and SLCO1B1 coding organic anion-transporter polypeptide 1B1, are independent risk factors known to increase irinotecan toxicity in adults. Although combined occurrence of polymorphisms in these 2 genes is likely to influence susceptibility to irinotecan toxicity, data are scarce, especially in children. We report an 11-year-old female with severe and prolonged neutropenia after irinotecan-based chemotherapy. The patient's genotyping revealed polymorphisms in both UGT1A1 and SLCO1B1. To our knowledge, this is the first case report of combined genotyping of both UGT1A1 and SLCO1B1 in a child with severe irinotecan toxicity.
尿苷二磷酸葡萄糖醛酸转移酶 1A1(UGT1A1)和 SLCO1B1 编码的有机阴离子转运多肽 1B1 的遗传多态性是已知的可增加成人伊立替康毒性的独立危险因素。尽管这两种基因的多态性的共同发生可能会影响对伊立替康毒性的易感性,但数据很少,尤其是在儿童中。我们报告了一例 11 岁女性,在接受基于伊立替康的化疗后出现严重和持久的中性粒细胞减少症。患者的基因分型显示 UGT1A1 和 SLCO1B1 均存在多态性。据我们所知,这是首例儿童严重伊立替康毒性合并 UGT1A1 和 SLCO1B1 基因分型的病例报告。