Departments of Dermatology and Pathology, Cardiovascular Research Institute, University of California, San Francisco, California 94158-9001; email:
Annu Rev Pathol. 2014;9:239-71. doi: 10.1146/annurev-pathol-012513-104658.
Melanomas comprise multiple biologically distinct categories, which differ in cell of origin, age of onset, clinical and histologic presentation, pattern of metastasis, ethnic distribution, causative role of UV radiation, predisposing germ-line alterations, mutational processes, and patterns of somatic mutations. Neoplasms are initiated by gain-of-function mutations in one of several primary oncogenes, which typically lead to benign melanocytic nevi with characteristic histologic features. The progression of nevi is restrained by multiple tumor-suppressive mechanisms. Secondary genetic alterations override these barriers and promote intermediate or overtly malignant tumors along distinct progression trajectories. The current knowledge about the pathogenesis and clinical, histologic, and genetic features of primary melanocytic neoplasms is reviewed and integrated into a taxonomic framework.
黑素瘤包含多个生物学上不同的类别，这些类别在细胞起源、发病年龄、临床和组织学表现、转移模式、种族分布、紫外线辐射的致病作用、潜在的种系改变、突变过程以及体细胞突变模式等方面存在差异。肿瘤是由几种主要致癌基因之一的功能获得性突变引发的，这些基因通常导致具有特征性组织学特征的良性黑素细胞痣。多个肿瘤抑制机制限制了痣的进展。继发性遗传改变会突破这些障碍，并沿着不同的进展轨迹促进中间或明显恶性肿瘤。本文回顾了原发性黑素细胞肿瘤的发病机制以及临床、组织学和遗传学特征，并将这些知识整合到一个分类框架中。
