Di Salvo Angela, Fabiano Carmelo, Mannara Vincenza, Dimarco Mariangela, Orlando Ambrogio, Affronti Marco, Macaluso Fabio Salvatore, Cottone Mario
Di.Bi.M.I.S., Division of Internal Medicine, "Villa Sofia-Cervello" Hospital, Palermo, Italy.
Laboratory of Molecular Genetics, "Villa Sofia-Cervello" Hospital, Palermo, Italy.
Dig Liver Dis. 2016 Dec;48(12):1506-1509. doi: 10.1016/j.dld.2016.08.125. Epub 2016 Sep 1.
Few studies exist on the frequency of thiopurine methyltransferase (TPMT) mutation in patients from Southern Europe. We aimed to evaluate the frequency of TPMT mutation in a homogeneous Sicilian cohort of patients with inflammatory bowel disease (IBD), autoimmune and hematological disorders, the rate of thiopurine-related adverse events, and its association with the TPMT genotype.
Among 105 patients with IBD, 45 with autoimmune disease, and 34 with hematologic diseases, the homozygous TPMT variant genotype was found in one patient only (0.5%), while the heterozygous TPMT genotype was identified in 8 patients (4.3%). In patients with IBD, leukopenia was observed in ten patients: one had the homozygous TPMT genotype, one the heterozygous genotype, and the remaining eight the wild type genotype.
The frequency of TPMT mutation in a Mediterranean area was low. TPMT genotyping is not a sensitive tool for predicting thiopurine-induced leukopenia.
关于来自南欧患者的硫嘌呤甲基转移酶（TPMT）突变频率的研究较少。我们旨在评估一组同质化的西西里岛炎症性肠病（IBD）、自身免疫性和血液系统疾病患者中TPMT突变的频率、硫嘌呤相关不良事件的发生率及其与TPMT基因型的关联。
在105例IBD患者、45例自身免疫性疾病患者和34例血液系统疾病患者中，仅1例患者（0.5%）发现纯合TPMT变异基因型，8例患者（4.3%）鉴定为杂合TPMT基因型。在IBD患者中，10例出现白细胞减少：1例为纯合TPMT基因型，1例为杂合基因型，其余8例为野生型基因型。
地中海地区TPMT突变频率较低。TPMT基因分型不是预测硫嘌呤诱导白细胞减少的敏感工具。
