Hiding in plain sight: molecular genetics applied to giant congenital melanocytic nevi.

J Invest Dermatol

INSERM, UMR_S910, Aix-Marseille Université, Marseille, France. Electronic address:

Published: April 2014

AI Article Synopsis

  • Large and giant congenital melanocytic nevi are uncommon skin conditions that provide insights into how nevi develop both before and after birth, as well as their potential to turn into cancer.
  • The research by Charbel et al. highlights advanced detection methods to identify specific genetic mutations (NRAS and BRAF) that are often hard to find in these nevi.
  • The study allows for a better understanding of congenital melanocytic nevi, moving beyond just size to include molecular characteristics that may indicate a higher risk for cancer.

Article Abstract

Large and giant congenital melanocytic nevi are rare malformations that offer surprising insight into prenatal and postnatal acquisition of nevi of any size, central and peripheral nervous system development, and melanomagenesis. In this issue, Charbel et al. demonstrate the use of highly sensitive detection techniques for recurrent but difficult-to-detect mutations in NRAS and BRAF. It is now possible to systematically add a molecular qualifier to distinguish lesions that had once been considered to be equivalent based on the single visual parameter of size. These findings help to elucidate the pathophysiology of congenital melanocytic nevi and their predisposition to malignancy.

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http://dx.doi.org/10.1038/jid.2013.531DOI Listing

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