首页|UGT1A1杂合突变与伊立替康所致不良反应的真实世界研究

UGT1A1杂合突变与伊立替康所致不良反应的真实世界研究

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为了研究某三甲肿瘤专科医院患者UGT1A1基因型分布,探索真实世界中患者UGT1A1基因多态性与服用伊立替康后的不良反应的相关性,我们回顾性分析2017年5月至2021年12月该院42例接受UGT1A1基因检测的患者资料,总结其中31例服用伊立替康后其血液学以及非血液学不良反应的发生情况.结果表明:UGT1A1*28基因杂合突变率为21.9％,纯合突变率为4.9％,UGT1A1*6基因杂合突变率为31.5％,未检测到纯合突变型;本研究中UGT1A1*6及*28杂合突变的患者较野生型患者血液学和非血液学不良反应未见显著性差异,血液学不良反应包括中性粒细胞减少、白细胞减少、血小板减少、血红蛋白减少,非血液学不良反应包括ALT/AST增高、ALP/GGT增高、胆红素增高、乏力、恶心、呕吐、迟发型腹泻;UGT1A1*6和*28双位点突变的患者出现迟发性腹泻的发生率为100％.研究表明,UGT1A1*6和*28双位点杂合突变的患者出现迟发性腹泻风险较高,需引起关注;UGT1A1杂合突变患者应用伊立替康后出现血液学及非血液学不良反应无显著性差异,但需进一步增加样本量证实这一结论.
Exploring irinotecan adverse reactions in the real world:a study on UGT1A1 heterozygous mutations
This study investigated the prevalence of UGT1A1 genotypes in patients at a specialized tertiary tumor hospital and examined the association between UGT1A1 gene polymorphisms and adverse reactions following irinotecan administration in real-world patients.We conducted a retrospective analysis of data from 42 patients who underwent UGT1A1 genetic testing between May 2017 and December 2021 at the hospital.We specifically focused on 31 of these patients,summarizing the occurrence of both hematological and non-hematological adverse reactions after irinotecan treatment.The findings revealed a heterozygous mutation rate of 21.9％for the UGT1A128 gene,a homozygous mutation rate of 4.9％,and a heterozygous mutation rate of 31.5％for the UGT1A16 gene.Notably,no homozygous mutations were detected.Analysis of patients with UGT1Al*6 and*28 heterozygous mutations showed no significant differences in hematological and non-hematological adverse reactions compared to wild-type patients.Hematological adverse reactions encompassed neutropenia,leukopenia,thrombocytopenia,and anemia,while non-hematological reactions included increased ALT/AST,ALP/GGT,bilirubin,as well as fatigue,nausea,vomiting,and delayed diarrhea.Remarkably,the incidence of delayed diarrhea in patients with UGT1A1*6 and*28 mutations was 100％,suggesting a higher risk in those with double mutations,warranting increased attention.In conclusion,while no significant differences in adverse reactions were observed between UGT1 A1 heterozygous mutation patients and wild-type patients following irinotecan application,it is important to note that further confirmation of these findings is necessary through an expanded sample size.

IrinotecanUGT1AlUridine diphosphate glucose uronate transferaseGenetic polymorphismAdverse reactions

左靖、孟珺、李超、夏铮铮、唐浩淳、李安娜、马晓芙

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国家癌症中心/国家肿瘤临床医学研究中心/中国医学科学院北京协和医学院肿瘤医院深圳医院药学部,广东深圳 518116

广东医科大学药学院,广东广州 510089

伊立替康 UGT1A1 尿苷二磷酸葡萄糖糖醛酸转移酶 基因多态性 不良反应

Chinese Academy of Medical Sciences Oncology Hospital Shenzhen Hospital Youth Initiation Fund ProjectGuangdong Provincial Health Appropriate Technology Promotion ProjectPharmaceutical Research Fund of Shenzhen Pharmaceutical Association HospitalSpecial Funding for the Construction of High-level Hospitals in Shenzhen

E010321017202206241503504959sz2022A11

2024

10.5246/jcps.2024.01.004

中国药学(英文版)
中国药学会

中国药学(英文版)

CSTPCD
影响因子：0.534
ISSN：1003-1057
年,卷(期)：2024.33(1)
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