Much Ado About a Mutation

Small and medium sized congenital melanocytic nevi (CMN) have an overall low risk of malignant potential. This case demonstrates a pediatric patient with a small CMN positive for LINC00518 (LINC) and preferentially expressed antigen in melanoma (PRAME) on a non-invasive molecular test not yet validated in children. Although her nevus had not evolved, the availability of a molecular test and curiosity ultimately raised concern about this otherwise reassuring, stable CMN. This demonstrates the pitfalls of non-invasive testing in pediatric patients with CMN.

Abstract from PubMed