黑色素瘤的生物标志物:从基因组学到表观遗传学  

Biomarkers of Melanoma: from Genetics to Epigenetics

作　　者：吴海竞 付思祺[1] 李倩文 张慧明[1] 陆前进[1] 郭重 

机构地区：[1]中南大学湘雅二医院皮肤科湖南省表观遗传重点实验室,长沙410011 [2]哈佛大学布莱根妇女医院皮肤病理科,波士顿美国02115 [3]哈佛大学布莱根妇女医院病理科,波士顿美国02115

出　　处：《协和医学杂志》2018年第1期60-68,共9页Medical Journal of Peking Union Medical College Hospital

基　　金：国家自然科学基金(81220108017;81522038;81602767;81430074);湖南省杰出青年基金(2013FJ4202);湖南省青年基金(2017JJ3453)

摘　　要：黑色素瘤是一种发病率极高、极难治愈的皮肤恶性肿瘤,其中转移性黑色素瘤的5年生存率几乎为零。虽然化疗和免疫疗法(如抗PD-1/PD-L1单克隆抗体生物制剂)发展迅速,药物抵抗的高发率仍是治愈率低的主要问题。因此,目前研究热点逐渐转移至"运用生物标志物进行早期辅助诊断和药物反应预测"。随着检测技术的日新月异,很多新型生物标志物被发现,甚至已作为治疗靶点。本文从基因水平和表观遗传学水平总结黑色素瘤的生物标志物研究进展,并讨论其对疾病诊断、发展和治疗反应的预测价值,为寻找潜在治疗靶点提供新的思路。Melanoma is one of the most aggressive cutaneous malignancies with an increasing incidence in recent decades,especially in western countries. It is considered to be an incurable disease, and patients with meta-static melanoma survive no more than 5 years. Despite rapid improvement in chemotherapy and immunotherapy, such as anti- PD-1/PD- L1 treatment,the high frequency of drug resistance remains a difficult problem. Thus, recent research has shifted slightly to the field of biomarkers to achieve the more urgent goal of aiding in the diagnosis and predicting response and resistance to therapy. With the development of fascinating technologies in laboratory testing, numerous novel biomarkers have been identified,and some of them exhibit potential as therapeutic targets. In this review,we summarize the latest genetic and epigenetic biomarkers,discuss their role in the prediction of disease progression and response to therapies,and provide insights into potential targets for future therapies.

关 键 词：黑色素瘤 PD-1 5-羟甲基化胞嘧啶 微小RNA 长链非编码RNA 

分 类 号：R751[医药卫生—皮肤病学与性病学]