骨肉瘤患者MTHFR C677T基因多态性与HD-MTX不良反应的相关性  

Correlation between MTHFR C677T gene polymorphism and adverse reactions of HD-MTX in patients with osteosarcoma

作　　者：魏宇[1] WEI Yu(Orthopedics Bone and Soft Tissue Tumor Surgery Department,Shengjing Hospital of China Medical University,Shengyang 110016,China)

机构地区：[1]中国医科大学附属盛京医院骨与软组织肿瘤外科,辽宁沈阳110016

出　　处：《沈阳药科大学学报》2022年第11期1368-1373,共6页Journal of Shenyang Pharmaceutical University

摘　　要：目的研究MTHFR C677T基因多态性与骨肉瘤患者使用大剂甲氨蝶呤干预后的不良反应的相关性。方法选取2020年12月到2021年12月作者单位收治并确诊为骨肉瘤的39例患者为研究对象,用大剂量甲氨蝶呤HD-MTX(high-dose methotrexate,HD-MTX)进行冲击治疗。对患者的外周血及肿瘤组织样本进行收集并妥善储存,然后从血液及组织中提取基因组DNA以检测MTHFR C677T基因的遗传多态性;同时使用实时荧光定量PCR法及TaqMan MGB探针技术检测基因型。结果骨肉瘤患者MTHFR C677T基因型分布中突变型较多,占43.6%(17/39);从整体看,C/C/型患者不良反应发生率最少,为66.7%(6/9),T/C型最高,为82.4%(14/17),T/T型居中,为76.9%(10/13)。结论骨肉瘤患者行大剂量甲氨蝶呤干预后,MTHFR基因677位点多态性会引起白细胞减少、胃肠道反应、口腔黏膜损伤、肝功能损伤等不良反应;不同基因型引起的不良反应不同。Objective To investigate the correlation between MTHFR C677 T gene polymorphism and adverse reactions after high-dose methotrexate intervention in patients with osteosarcoma.Methods From December 2020 to December 2021,39 patients who were admitted to the author′s unit and were diagnosed with osteosarcoma were selected as the research subjects,and HD-MTX was used for pulse therapy.The patient′s peripheral blood and tumor tissue samples were collected and properly stored,and then genomic DNA was extracted from the blood and tissue to detect the genetic polymorphism of MTHFR C677 T;at the same time,real-time quantitative PCR and TaqMan MGB probe technology were used to detect the genotype.Results The MTHFR C677 T genotype distribution in patients with osteosarcoma was more mutated,accounting for 43.6%(17/39);overall,the incidence of adverse reactions in patients with C/C/type was the least,which was 66.7%(6/9)./C type was the highest at 82.4%(14/17),and T/T type was in the middle at 76.9%(10/13).Conclusion After high-dose methotrexate intervention in patients with osteosarcoma,MTHFR gene 677 locus polymorphism can cause leukopenia,gastrointestinal reactions,oral mucosal damage,liver function damage and other adverse reactions;adverse reactions caused by different genotypes different.

关 键 词：骨肉瘤 甲氨蝶呤 亚甲基四氢叶酸还原酶 基因多态性 不良反应 

分 类 号：R738.1[医药卫生—肿瘤]