Identification of subtype-specific mutations in the genes CTNNB1 and BRAF in craniopharyngiomas could have implications for the diagnosis and treatment of patients with these brain tumours. Whole-exome sequencing identified mutations in CTNNB1 (which encodes β-catenin) in 92% of analysed adamantinomatous craniopharyngiomas, a subtype of craniopharyngiomas that is typically found in children. By contrast, all neoplasms of the papillary subtype, which is more frequent in adults, exhibited mutations in BRAF.
References
Brastianos, P. K. et al. Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas. Nat. Genet. 10.1038/ng.2868
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Pathogenetics of craniopharyngiomas unravelled. Nat Rev Endocrinol 10, 190 (2014). https://doi.org/10.1038/nrendo.2014.7
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DOI: https://doi.org/10.1038/nrendo.2014.7
