Scatena Cristian, Murtas Daniela, Tomei Sara
Division of Pathology, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
Department of Biomedical Sciences, Section of Cytomorphology, University of Cagliari, Cagliari, Italy.
Front Oncol. 2021 May 28;11:635488. doi: 10.3389/fonc.2021.635488. eCollection 2021.
Cutaneous melanoma is an aggressive tumor responsible for 90% of mortality related to skin cancer. In the recent years, the discovery of driving mutations in melanoma has led to better treatment approaches. The last decade has seen a genomic revolution in the field of cancer. Such genomic revolution has led to the production of an unprecedented mole of data. High-throughput genomic technologies have facilitated the genomic, transcriptomic and epigenomic profiling of several cancers, including melanoma. Nevertheless, there are a number of newer genomic technologies that have not yet been employed in large studies. In this article we describe the current classification of cutaneous melanoma, we review the current knowledge of the main genetic alterations of cutaneous melanoma and their related impact on targeted therapies, and we describe the most recent high-throughput genomic technologies, highlighting their advantages and disadvantages. We hope that the current review will also help scientists to identify the most suitable technology to address melanoma-related relevant questions. The translation of this knowledge and all actual advancements into the clinical practice will be helpful in better defining the different molecular subsets of melanoma patients and provide new tools to address relevant questions on disease management. Genomic technologies might indeed allow to better predict the biological - and, subsequently, clinical - behavior for each subset of melanoma patients as well as to even identify all molecular changes in tumor cell populations during disease evolution toward a real achievement of a personalized medicine.
皮肤黑色素瘤是一种侵袭性肿瘤，占皮肤癌相关死亡率的90%。近年来，黑色素瘤驱动突变的发现带来了更好的治疗方法。过去十年见证了癌症领域的基因组革命。这种基因组革命产生了前所未有的大量数据。高通量基因组技术推动了包括黑色素瘤在内的多种癌症的基因组、转录组和表观基因组分析。然而，有一些更新的基因组技术尚未在大型研究中得到应用。在本文中，我们描述了皮肤黑色素瘤的当前分类，回顾了皮肤黑色素瘤主要基因改变的现有知识及其对靶向治疗的相关影响，并描述了最新的高通量基因组技术，突出了它们的优缺点。我们希望当前的综述也能帮助科学家确定最适合解决黑色素瘤相关问题的技术。将这些知识和所有实际进展转化为临床实践，将有助于更好地界定黑色素瘤患者的不同分子亚群，并提供新的工具来解决疾病管理方面的相关问题。基因组技术确实可能有助于更好地预测每个黑色素瘤患者亚群的生物学行为以及随后的临床行为，甚至在疾病向真正实现个性化医疗发展的过程中识别肿瘤细胞群体中的所有分子变化。
