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Review
. 2014:9:239-71.
doi: 10.1146/annurev-pathol-012513-104658.

The molecular pathology of melanoma: an integrated taxonomy of melanocytic neoplasia

Boris C Bastian  1
Affiliations
Review

The molecular pathology of melanoma: an integrated taxonomy of melanocytic neoplasia

Boris C Bastian. Annu Rev Pathol. 2014.

Abstract

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.

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Figures

Figure 1
Figure 1. Taxonomy of melanocytic neoplasia
A) Melanocytic neoplasms arising from epithelium-associated melanocytes. Where applicable, benign or intermediate progression stages are noted. The different classes have different relationship to UV radiation and age distributions, shown at the bottom. B) Melanocytic neoplasms arising from non-epithelium associated melanocytes. The categories have no relationship to UV radiation and, with the exception of congenital nevus-associated melanomas, which occur primarily in prepubertal children, a wide age distribution.
Figure 1
Figure 1. Taxonomy of melanocytic neoplasia
A) Melanocytic neoplasms arising from epithelium-associated melanocytes. Where applicable, benign or intermediate progression stages are noted. The different classes have different relationship to UV radiation and age distributions, shown at the bottom. B) Melanocytic neoplasms arising from non-epithelium associated melanocytes. The categories have no relationship to UV radiation and, with the exception of congenital nevus-associated melanomas, which occur primarily in prepubertal children, a wide age distribution.
Figure 2
Figure 2
Histologic patterns of archetypical progression patterns for the classes depicted in figure 2
Figure 3
Figure 3. Signaling pathways disrupted by genetic alterations and their relationship to the hallmarks of melanoma
Genes boxed in red are affected by gain of function mutations, those in blue by loss of function mutations.
See this image and copyright information in PMC

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