Clinical Oncology Service, Department of Internal Medicine, Faculty of Medical Sciences, University of Campinas, Campinas, SP, Brazil.
Department of Clinical Pathology, Faculty of Medical Sciences, University of Campinas, Campinas, SP, Brazil.
Pigment Cell Melanoma Res. 2018 Mar;31(2):308-317. doi: 10.1111/pcmr.12665. Epub 2017 Nov 22.
This study aimed to evaluate whether PD1.1 (c.-606G>A), PD1 (c.627 + 252C>T), PD1.5 (c.804C>T), and PD1.9 (c.644C>T) single nucleotide polymorphisms of PDCD1 gene influence the risk, clinicopathological aspects, and survival of cutaneous melanoma (CM). Individuals with phototype I or II and PD1 CC genotype were under 5.89-fold increased risk of developing CM. PD1.5 TT genotype increased PDCD1 expression (2.49 versus 1.28 arbitrary units, p = .03) and PD1.5 CT or TT genotype and allele T increased PD1 expression in TCD4 lymphocytes (16.6 versus 12.5%, p = .01; 17.0 versus 13.1%, p = .006). At 60 months of follow-up, short recurrence-free survival was seen in patients with PD1.1 AA genotype (33.3 versus 71.8%, p = .03). Patients with PD1.1 AA and PD1.5 CC genotype had 4.21 and 2.62 more chances of presenting relapse and evolving death by disease in Cox analyses, respectively. Our data provide preliminary evidence that abnormalities in regulation of T lymphocyte alter CM risk, clinical aspects, and prognosis.
这项研究旨在评估 PDCD1 基因的 PD1.1（c.-606G>A）、PD1（c.627+252C>T）、PD1.5（c.804C>T）和 PD1.9（c.644C>T）单核苷酸多态性是否影响皮肤黑色素瘤（CM）的风险、临床病理特征和生存。光型 I 或 II 个体和 PD1 CC 基因型患 CM 的风险增加了 5.89 倍。PD1.5 TT 基因型增加了 PDCD1 的表达（2.49 与 1.28 个任意单位，p=.03），PD1.5 CT 或 TT 基因型和 T 等位基因增加了 TCD4 淋巴细胞中的 PD1 表达（16.6%比 12.5%，p=.01；17.0%比 13.1%，p=.006）。在 60 个月的随访中，PD1.1 AA 基因型患者的无复发生存时间较短（33.3%比 71.8%，p=.03）。在 Cox 分析中，PD1.1 AA 和 PD1.5 CC 基因型的患者复发和疾病进展死亡的风险分别增加了 4.21 倍和 2.62 倍。我们的数据提供了初步证据，表明 T 淋巴细胞调节异常改变了 CM 的风险、临床特征和预后。
