1st Department of Dermatovenereology, St. Anne's University Hospital, Faculty of Medicine, Masaryk University, 65691 Brno, Czech Republic.
Department of Pathological Physiology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic.
Genes (Basel). 2022 Dec 18;13(12):2401. doi: 10.3390/genes13122401.
Cutaneous T-cell lymphoma (CTCL) is a group of T-cell malignancies that develop in the skin. Though studied intensively, the etiology and pathogenesis of CTCL remain elusive. This study evaluated the survival of CTCL patients in the 1st Department of Dermatovenereology of St. Anne's University Hospital Brno. It included analysis of 19 polymorphic gene variants based on their expected involvement in CTCL severity.
75 patients with CTCL, evaluated and treated at the 1st Department of Dermatovenereology of St. Anne´s University Hospital Brno, Faculty of Medicine, Masaryk University, were recruited for the study over the last 28 years (44 men and 31 women, average age 58 years, range 20-82 years). All patients were genotyped for 19 chosen gene polymorphisms by the conventional PCR method with restriction analysis. A multivariate Cox regression model was calculated to reveal genetic polymorphisms and other risk factors for survival.
The model identified MDR Ex21 2677 (rs2032582) as a significant genetic factor influencing the survival of the patients, with the T-allele playing a protective role. A multivariate stepwise Cox regression model confirmed the following as significant independent risk factors for overall survival: increased age at admission, clinical staging of the tumor, and male sex.
We showed that the TT genotype at position 2677 of the MDR1 gene exhibited statistically significant longer survival in CTCL patients. As such, the TT genotype of MDR1 confers a significant advantage for the CTCL patients who respond to treatment.
皮肤 T 细胞淋巴瘤(CTCL)是一组在皮肤中发展的 T 细胞恶性肿瘤。尽管进行了深入研究,但 CTCL 的病因和发病机制仍难以捉摸。本研究评估了布尔诺圣安妮大学医院第 1 皮肤科治疗的 CTCL 患者的生存率。它包括基于预期参与 CTCL 严重程度的 19 个多态性基因变异的分析。
在过去的 28 年中,我们在布尔诺圣安妮大学医院第 1 皮肤科(马萨里克大学医学院)招募了 75 名 CTCL 患者进行评估和治疗(44 名男性和 31 名女性,平均年龄 58 岁,范围 20-82 岁)。通过传统的 PCR 方法与限制分析,对所有患者进行了 19 个选定基因多态性的基因分型。计算了多变量 Cox 回归模型,以揭示遗传多态性和其他生存风险因素。
该模型确定 MDR Ex21 2677(rs2032582)是影响患者生存的重要遗传因素,T 等位基因发挥保护作用。多变量逐步 Cox 回归模型证实以下因素是总体生存的重要独立危险因素:入院时年龄增加、肿瘤临床分期和男性。
我们表明,MDR1 基因 2677 位置的 TT 基因型在 CTCL 患者中表现出统计学上显著更长的生存时间。因此,MDR1 的 TT 基因型对治疗反应良好的 CTCL 患者具有显著优势。