Abstract：
Thiopurine-methyltransferase (TPMT) and nudix-hydrolase-15 (NUDT15) are enzymes relevant to the metabolism of thiopurine medications, used to treat immunologic disorders and malignancies. Standard dosing administered in the setting of TPMT/NUDT15 dysfunction can cause excessive cytotoxic metabolites and life-threatening complications. We describe an adolescent with high-risk B-cell acute lymphoblastic leukemia (ALL) whose TPMT/NUDT15 status was unknown due to lack of insurance approval for genetic testing. He subsequently developed myelosuppression and severe veno-occlusive disease (VOD) after receiving 6-mercaptopurine (6-MP). Our patient provides an example of a very rare 6-MP-related toxicity and the potential benefit of TPMT/NUDT15 screening before initiating thiopurine therapy.
摘要：
硫嘌呤-甲基转移酶（TPMT）和nudix-水解酶-15（NUDT15）是与硫嘌呤药物代谢相关的酶，用于治疗免疫疾病和恶性肿瘤。在TPMT/NUDT15功能障碍的情况下施用的标准剂量可导致过度的细胞毒性代谢物和危及生命的并发症。我们描述了一名患有高风险B细胞急性淋巴细胞白血病（ALL）的青少年，由于缺乏遗传测试的保险批准，其TPMT/NUDT15状态未知。随后，他在接受6-巯基嘌呤（6-MP）后出现了骨髓抑制和严重的静脉闭塞性疾病（VOD）。我们的患者提供了一个非常罕见的6-MP相关毒性以及在开始硫代嘌呤治疗之前TPMT/NUDT15筛查的潜在益处的例子。
