Congenital melanocytic naevi initiated by BRAF fusion oncogene with firmness, pruritus and desmoplastic stroma.

ABSTRACT:

Background

Large and giant congenital melanocytic naevi (CMN) present a risk for developing melanoma or neurocutaneous melanosis. Most CMN are caused by NRAS or, less commonly, BRAF mutations.

Objectives

To present a series of patients with large-to-giant CMN with BRAF fusion genes as driver alterations and describe their unique clinical presentation.

Methods

We retrospectively identified five patients, from three academic institutions, with giant CMN harbouring BRAF fusion genes. We analysed tumour DNA using capture-based next-generation sequencing.

Results

Four of five patients with giant CMN harbouring a BRAF fusion gene exhibited thousands of satellite naevi, many with significant pruritus, nodularity and firmness. One patient developed neurocutaneous melan

SUBMITTER: Roy SF 

PROVIDER: S-EPMC12268035 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature