Department of Dermatology and Pathology, University of California, San Francisco, CA, USA.
Br J Dermatol. 2021 Aug;185(2):282-293. doi: 10.1111/bjd.20427. Epub 2021 May 31.
Cancer is caused by the accumulation of pathogenic alterations of the genome and epigenome that result in permanent changes that disrupt cellular homeostasis. The genes that become corrupted in this process vary among different tumour types, reflecting specific vulnerabilities and dependencies of the cell from which the cancer originated. This also applies to 'melanoma', a cancer that constitutes not one, but multiple diseases that can be separated based on their cell of origin, aetiology, clinical appearance and course, and response to treatment. In this article, we review the current classification of melanoma within distinct evolutionary pathways and the associated genetic alterations. In addition, we review the application of molecular diagnostics to the diagnosis of melanocytic tumours in the context of histopathological assessment.
癌症是由基因组和表观基因组的致病性改变积累引起的,这些改变导致了破坏细胞内稳态的永久性变化。在这个过程中,发生突变的基因在不同的肿瘤类型中有所不同,反映了癌症起源细胞的特定脆弱性和依赖性。这同样适用于“黑色素瘤”,它不是一种癌症,而是多种疾病,可以根据其起源细胞、病因、临床表现和病程以及对治疗的反应来进行区分。在本文中,我们回顾了黑色素瘤在不同进化途径中的当前分类以及相关的遗传改变。此外,我们还回顾了分子诊断在组织病理学评估背景下用于诊断黑色素瘤的应用。