Much Ado About a Mutation: Congenital Melanocytic Nevus With <scp>LINC00518</scp> and Preferentially Expressed Antigen in Melanoma Positivity

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.

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Publication Details

Journal
Pediatric Dermatology
Published
2026-08-17
DOI
https://doi.org/10.1111/pde.70341
Primary Topic
Cutaneous Melanoma Detection and Management
Type
article
Field-Weighted Citation Impact
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article

Much Ado About a Mutation: Congenital Melanocytic Nevus With LINC00518 and Preferentially Expressed Antigen in Melanoma Positivity

Elena B. Hawryluk, Holly Neale, Tatiana Abrantes, Ingrid M. Ganske et al.
Pediatric Dermatology
Cutaneous Melanoma Detection and Management
article

Much Ado About a Mutation: Congenital Melanocytic Nevus With LINC00518 and Preferentially Expressed Antigen in Melanoma Positivity

Elena B. Hawryluk, Holly Neale, Tatiana Abrantes, Ingrid M. Ganske, Birgitta Schmidt, Racquel A. Bitar
article en

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.

Pediatric Dermatology
Boston Children's Hospital (US), Harvard University (US), University of Massachusetts Chan Medical School (US), Brown University (US), Massachusetts General Hospital (US), Boston Children's Museum (US), UMass Memorial Medical Center (US)
Openalex Percentile: Top 13%
Cutaneous Melanoma Detection and Management
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Much Ado About a Mutation: Congenital Melanocytic Nevus With <scp>LINC00518</scp> and Preferentially Expressed Antigen in Melanoma Positivity — Elena B. Hawryluk, Holly Neale, et al. · Pediatric Dermatology (2026) | TGRS Research Map | TGRS