GNAQ mutation in primary spinal melanoma: illustrative case

The authors present a potential mechanism of primary spinal melanoma tumorigenesis associated with GNAQ. GNAQ mutations lead to abnormal β-catenin activation in neural crest cells, resulting in differentiation into melanoblasts and migration to the spinal cord. Over time, GNAQ mutations can lead to aberrant proliferation of ectopic melanocytes due to downstream activation of the RAS/RAF signaling pathway. Understanding this pathomechanism and its role in primary CNS melanoma may provide a route for potential targeted therapy. https://thejns.org/doi/10.3171/CASE25183.