Department of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
J Invest Dermatol. 2013 Sep;133(9):2127-30. doi: 10.1038/jid.2013.146.
Linking phenotypic patterns of melanocytic neoplasia to specific gene mutations allows more precise predicting of clinical behavior and response to targeted therapy. In this issue, Kinsler et al. provide evidence that multiple congenital nevi with central nervous system lesions are likely exclusively the result of mosaic mutations in NRAS. We discuss the link between mosaic NRAS mutations, cellular senescence, and clinical phenotype in these nevi.
将黑色素细胞肿瘤的表型模式与特定的基因突变联系起来,可以更准确地预测临床行为和对靶向治疗的反应。在本期杂志中,Kinsler 等人提供的证据表明,伴有中枢神经系统病变的多发性先天性痣很可能仅由 NRAS 镶嵌突变引起。我们讨论了镶嵌性 NRAS 突变、细胞衰老与这些痣的临床表型之间的联系。