目的 明确亚甲基四氢叶酸还原酶（MTHFR）C677T、A1298C基因多态性与成人患者使用大剂量甲氨蝶呤（MTX）治疗急性淋巴细胞白血病（ALL）毒性反应和24、48、72 h MTX血药浓度关系。方法 收集2014年6月—2020年6月就诊于新疆医科大学第一附属医院成人急性淋巴细胞白血病75例患者血样检测MTHFR C677T及A1298C基因多态性, 根据抗癌药物常见毒性反应分级标准对毒性反应进行分级,采用非条件Logistic回归分析MTHFR C677T、A1298C基因多态性与HD-MTX毒性反应及血药浓度的关系。结果 MTHFR 677TT型发生贫血风险显著高于CC型（P=0.027, OR=4.694, 95%CI：1.195~18.438）; 未发现MTHFR C677T与白细胞减少、血小板计数减少、中性粒细胞计数减少、淋巴粒细胞计数减少、骨髓抑制、谷丙转氨酶升高、谷草转氨酶升高、肝功能损伤、急性肾损伤及黏膜损伤、24 h、48 h及72 h MTX血药浓度有相关性（P>0.05）; 未发现MTHFR A1298C与HD-MTX毒性反应及血药浓度有相关性（P>0.05）。结论 MTHFR C677T基因多态性与成人急性淋巴细胞白血病患者大剂量MTX化学治疗后血液毒性存在相关性。

Objective To determine the relationship among C677T and A1298C gene polymorphisms of methyltetrahydrofolate reductase（MTHFR）and adult acute lymphocytic leukemia（ALL）, the relationship between the toxicity of high-dose methotrexate（HD-MTX）after chemotherapy and the MTX blood concentration of 24 h, 48 h and 72 h in patients with ALL．Methods Blood samples were collected from 75 adult patients with ALL who were treated at the First Affiliated Hospital of Xinjiang Medical University from June 2014 to June 2020．The samples were used to detect the genetic polymorphisms of MTHFR C677T and A1298C, and the toxic reactions were graded according to the common toxic reaction classification criteria of anti-cancer drugs．Unconditional Logistic regression was used to analyze the relationship between MTHFR C677T and A1298C gene polymorphisms and HD-MTX toxic reactions and blood drug concentration．Results The risk of anemia in MTHFR 677TT was significantly higher than that in CC type（P=0.027, OR=4.694, 95% CI：1.195-18.438）．No correlation was found between MTHFR C677T and leukopenia, thrombocytopenia, neutropenia, lymphogranulocytopenia, bone marrow suppression, elevated alanine aminotransferase, elevated aspartate aminotransferase, liver function injury, acute kidney injury and mucosal injury, 24 h, 48 h and 72 h MTX plasma concentrations（>0.05）．No correlation was found among MTHFR A1298C and HD-MTX toxicity and blood concentration（P>0.05）．Conclusions MTHFR C677T gene polymorphism is associated with hematotoxicity after HD-MTX chemotherapy in adult patients with ALL．

目的 探讨常规超声心动图联合二维斑点追踪技术评估急性白血病患儿在接受蒽环类药物治疗后产生的心脏毒性,早期检测左心功能障碍。方法 采用前瞻性非随机观察研究,选取新诊断急性淋巴细胞白血病患儿20例,分别于确诊白血病后接受蒽环类药物治疗前、接受所有蒽环类药物剂量后以及确诊白血病1年后,进行常规超声心动图和二维斑点技术监测评估心脏毒性。结果 左室流出道速度积分TVI和E、E/E’在治疗期间下降,并在诊断后1年恢复至治疗前数值。在二维斑点追踪纵向应变中,GLPS-LAX、GLPS-A2C、LV-GLPS在完成所有蒽环类药物剂量后与诊断后比较差异有统计学意义,以及诊断后1年与蒽环类药物治疗后比较差异有统计学意义。但GLPS-A4C各时间点比较差异无统计学意义。结论 常规超声心动图联合二维斑点追踪技术的纵向整体应变可早期发现白血病患儿化疗所致的左室功能障碍。

Objective To evaluate cardiotoxicity in children with acute lymphoblastic leukemia treated with anthracyclines by echocardiography combined with 2D speckle tracking imaging,and to detect left heart dysfunction early．Methods In this prospective nonrandomized study,20 children with newly diagnosed acute lymphoblastic leukemia were assessed for cardiotoxicity by echocardiography and 2D speckle tracking imaging in three periods during the treatment．Results The left ventricular outflow tract velocity integral TVI and E,E/E’ decreased during treatment,and went back to the pre-treatment value one year after diagnosis．In the longitudinal strain of 2D speckle tracking imaging,in GLPS-LAX,GLPS-A2C,LV-GLPS,there were statistical differences between treatment completed and after diagnosis,and between 1 year after diagnosis and treatment completed．However,GLPS-A4C has no statistical significance．Conclusion sThe conventional echocardiography combined with longitudinal overall strain of 2D speckle tracking imaging can comprehensively evaluate the early changes of left ventricular dysfunction caused by chemotherapy in children with leukemia．