Department of Dermatology, University of Maryland School of Medicine, Baltimore, MD 21230, USA.
Genes (Basel). 2021 Oct 30;12(11):1751. doi: 10.3390/genes12111751.
Over 100,000 people are diagnosed with cutaneous melanoma each year in the United States. Despite recent advancements in metastatic melanoma treatment, such as immunotherapy, there are still over 7000 melanoma-related deaths each year. Melanoma is a highly heterogenous disease, and many underlying genetic drivers have been identified since the introduction of next-generation sequencing. Despite clinical staging guidelines, the prognosis of metastatic melanoma is variable and difficult to predict. Bioinformatic and machine learning analyses relying on genetic, clinical, and histopathologic inputs have been increasingly used to risk stratify melanoma patients with high accuracy. This literature review summarizes the key genetic drivers of melanoma and recent applications of bioinformatic and machine learning models in the risk stratification of melanoma patients. A robustly validated risk stratification tool can potentially guide the physician management of melanoma patients and ultimately improve patient outcomes.
每年有超过 100,000 人被诊断患有皮肤黑色素瘤在美国。尽管最近在转移性黑色素瘤治疗方面取得了进展,例如免疫疗法,但每年仍有超过 7000 例与黑色素瘤相关的死亡。黑色素瘤是一种高度异质性疾病,自下一代测序技术问世以来,已经确定了许多潜在的遗传驱动因素。尽管有临床分期指南,但转移性黑色素瘤的预后是可变的,难以预测。基于遗传、临床和组织病理学输入的生物信息学和机器学习分析越来越多地被用于高精度地对黑色素瘤患者进行风险分层。这篇文献综述总结了黑色素瘤的关键遗传驱动因素以及生物信息学和机器学习模型在黑色素瘤患者风险分层中的最新应用。一个经过严格验证的风险分层工具可能有助于指导医生对黑色素瘤患者的管理,并最终改善患者的预后。