Genetic and immune profiling for potential therapeutic targets in adult human craniopharyngioma.

Craniopharyngioma is a rare tumor in adults. Although histologically benign, it can be locally aggressive and may require additional therapeutic modalities to surgical resection. Analyses including next generation sequencing, chromogenic and hybridization, immunohistochemistry, and gene amplification were used to profile craniopharyngiomas (n=6) for frequently altered therapeutic targets. Four of six patients had the missense mutation, frequent in the papillary craniopharyngioma subtype. One patient had a missense mutation in the pathway, specifically , often associated with the adamantinomatous subtype. Craniopharyngiomas lacked microsatellite instability, had low tumor mutational burden, but did express PD-L1 protein, indicating potential therapeutic value for immune checkpoint inhibition. We identified mutations not previously described, including an missense mutation in the gene, an frameshift in the gene of the PIK3CA pathway, in the gene, and a mutation in . Two patients testing positive for expression were negative for the variant. Herein, we identified several alterations such as those in and PD-L1, which may be considered as targets for combination therapy of residual craniopharygiomas.