BAP1

This retrospective study utilized targeted next-generation sequencing to identify genetic variants with prognostic value in uveal melanoma. Mutations in BAP1, CHEK2, and DICER1 were independently associated with a poorer prognosis and increased metastatic risk. Furthermore, BAP1 and LRP1B mutations were linked to epithelioid/mixed histology, while SF3B1 mutation was associated with spindle cell morphology. These findings suggest that mutational profiling could improve risk stratification and patient follow-up.

This study investigates the impact of next-generation sequencing (NGS) on the diagnosis of BAP1 inactivated melanocytic tumors (BIMTs), which often exhibit significant morphological atypia, complicating their classification. A survey among dermatopathologists revealed that incorporating NGS results significantly improved diagnostic accuracy and interobserver agreement. Specific genomic aberrations, including pathogenic variants in TERT-p, CDKN2A, PTEN, and MYC amplification, were found exclusively in malignant cases. These findings suggest that NGS could refine melanoma diagnosis, which is critical for guiding access to effective therapies.