Large Congenital Melanocytic Nevus With LMNA::NTRK1 Fusion: Expanding Targeted Therapy Options for Congenital Nevi and Melanoma.

ABSTRACT: Large congenital melanocytic nevi/nevus (LCMN) are caused by genetic events that activate the mitogen-activated protein kinase (MAPK) and extracellular signal-regulated kinase (ERK) pathway. Individuals with LCMN are prone to developing aggressive melanomas during childhood. Targeted therapies are needed to treat this form of melanoma and manage LCMN symptoms such as pruritus and pain, which significantly impact quality of life. Here, we present the first case of an LCMN with an NTRK fusion driver event. The patient presented with an atypical proliferative nodule arising in the background nevus. RNA sequencing of the proliferative nodule with background nevus identified a pathogenic LMNA::NTRK1 fusion. The fusion resulted in constitutive expression of TrkA, demonstrated by strong cytoplasm

SUBMITTER: Nagarkar A 

PROVIDER: S-EPMC12227274 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature