Much Ado About a Mutation: Congenital Melanocytic Nevus With LINC00518 and Preferentially Expressed Antigen in Melanoma Positivity
Related Experiment Video
Updated: Aug 19, 2026

Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
Published on: June 7, 2019
Racquel A Bitar1,2, Tatiana F Abrantes3, Holly Neale4
1Department of Internal Medicine, UMass Chan Medical School, Worcester, Massachusetts, USA.
Abstract:
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.
Insights
A non-invasive molecular test for congenital melanocytic nevi (CMN) showed concerning markers in a pediatric patient. This highlights potential pitfalls of applying unvalidated tests in children, even for stable nevi.
Area of Science:
- Dermatology
- Pediatric Oncology
- Molecular Diagnostics
Background:
- Small and medium congenital melanocytic nevi (CMN) generally pose a low risk for malignant transformation.
- Non-invasive molecular tests are emerging for nevus assessment, but their pediatric validation is limited.
More Related Videos
08:18Analysis of Lymph Node Volume by Ultra-High-Frequency Ultrasound Imaging in the Braf/Pten Genetically Engineered Mouse Model of Melanoma
Published on: September 8, 2021
11:15Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Related Concept Videos
Non-LTR Retrotransposons
Mismatch Repair
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Abnormal Proliferation
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...