Successful Treatment of a Patient with Glioblastoma and a Germline POLE Mutation: Where Next?

摘要

Hypermutation and elevated neoantigen count in glioblastoma occurred in a patient harboring a germline POLE mutation and are associated with a clinical and antitumor immune response to PD-1 blockade. Since the first report of a correlation between mutation burden and clinical benefit from CTLA4 blockade in patients with melanoma (1), gathering evidence has demonstrated that mutation burden correlates with, but imperfectly predicts response to, checkpoint blockade immunotherapy. This phenomenon has been described with agents targeting CTLA4 (2), PD-1 (3), or PD-L1 (4) in advanced melanomas, non-small cell lung cancers, and urothelial cancers, respectively.