NUDT15基因型对儿童急性淋巴细胞白血病6-MP个体化治疗的影响

6-巯基嘌呤（6-MP）是急性淋巴细胞白血病（ALL）维持治疗阶段的重要药物，其副作用包括肝毒性和骨髓抑制，不同个体对6-MP的耐受差异较大，6-MP治疗需个体化。巯嘌呤甲基转移酶（TPMT）活性缺乏与6-MP不耐受具有相关性。但亚洲患者TPMT等位基因的突变频率较低。近来发现存在NUDT15基因突变的ALL患者6-MP耐受剂量低于常规剂量。该文就NUDT15基因型对ALL患儿6-MP个体化治疗的影响进行综述。

Significance of NUDT15 gene in individualized treatment with 6-mercaptopurine in children with acute lymphoblastic leukemia

As an important drug during maintenance treatment of acute lymphoblastic leukemia (ALL), 6-mercaptopurine (6-MP) has several side effects, including hepatotoxicity and bone marrow suppression. Since its tolerability varies from person to person, 6-MP treatment should be individualized. The deficiency of thiopurine methyltransferase (TPMT) enzyme activity is associated with 6-MP intolerance. There is a lower frequency of mutation in TPMT alleles among Asian patients. Recent studies have shown that in ALL patients with NUDT15 gene mutation, the maximum tolerated dose of 6-MP is lower than the conventional dose. The article reviews the significance of NUDT15 gene in individualized treatment with 6-MP in children with ALL.