Clinical outcomes and genomic profiles of MAP2K1-mutated primary cutaneous melanocytic tumours.

ABSTRACT:

Background

Primary cutaneous melanocytic tumours harbouring MAP2K1 mutations without second-hit genomic alterations represent a subclass of neoplasms with poorly understood biological behaviour. This study aimed to investigate the clinical outcomes and genomic characteristics of these tumours.

Methods

This cohort study included primary cutaneous melanocytic tumours with MAP2K1 mutations from patients at two academic centres (Leiden University Medical Centre and University Medical Centre Utrecht). These mutations were categorised into three functional classes: Class I (RAF-dependent), Class II (RAF-regulated), and Class III (RAF-independent). Tumours underwent histopathological evaluation, next-generation sequencing (NGS), and copy number variation (CNV) analysis and were cat

SUBMITTER: Ebbelaar CF 

PROVIDER: S-EPMC11960658 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature