SOX10, belonging to a family of 20 SRY-related high mobility group box-containing (SOX) proteins, is crucial for cell type specification and differentiation, especially in neural crest development [1]. It encodes a transcription factor involved in embryogenesis and cell differentiation, aiding neural crest shuttling and development [2].

In mouse models, Sox10 upregulation is associated with macrophage-like vascular smooth muscle cell (VSMC) accumulation and pyroptosis in neointimal hyperplasia, suggesting it escalates vascular inflammation [3]. In glioblastoma, suppressing Sox10 promotes tumor progression to an aggressive neural stem-cell (NSC)/developmental-like phenotype, including a quiescent NSC-like cell population [4]. In melanoma, loss of SOX10 reduces proliferation, leads to invasive properties, and promotes tolerance to BRAF and/or MEK inhibitors [5]. Also, SOX10-deficient melanoma cells are more sensitive to CD8+ T cell-mediated killing and cytokine-induced cell death [7]. In schwannomas, novel SOX10 indel mutations drive a unique subtype by impeding proper differentiation of immature Schwann cells [6].

In conclusion, SOX10 is essential for the development and differentiation of various cell lineages, especially those derived from the neural crest. Model-based research, especially gene knockout studies in mice, has revealed its role in multiple disease conditions such as vascular inflammation, glioblastoma, melanoma, and schwannomas, providing insights into disease mechanisms and potential therapeutic targets.