Dermatology Research Centre, The University of Queensland, The University of Queensland Diamantina Institute, Brisbane, Queensland, Australia.
J Invest Dermatol. 2019 Apr;139(4):756-759. doi: 10.1016/j.jid.2018.10.003.
Large-giant congenital melanocytic nevi have been well characterized clinically, yet questions remain about the heterogenous phenotypes observed. Martins da Silva et al. (2018) highlight the genotypic diversity between "classic" and "spilus-like" congenital melanocytic nevi by analyzing multiple biopsy sites and matching satellite nevi. This study provides evidence for alternative modes of development beyond the well-established NRAS mutation paradigm.
巨大多发型先天性黑素细胞痣在临床上已有很好的描述,但对于观察到的异质性表型仍存在疑问。Martins da Silva 等人(2018 年)通过分析多个活检部位和匹配卫星痣,强调了“经典”和“Spilus 样”先天性黑素细胞痣之间的基因型多样性。该研究提供了除了既定的NRAS 突变范例之外,替代性发育模式的证据。