pyrimidinones and Spinal-Cord-Neoplasms

Epithelioid glioblastoma multiforme (eGBM) is a rare and aggressive variant of glioblastoma multiforme (GBM) that predominantly affects younger patients and can be difficult to distinguish from other gliomas. Data on how patients with eGBM might be best treated are limited, although genomic analyses have shown that almost half of tumours harbour activating BRAF gene mutations. Here we present the case of a young female with BRAF V600E-mutant eGBM who had a prolonged response to targeted therapy with the BRAF and MEK1/2 inhibitors dabrafenib and trametinib. We review current knowledge about eGBM, including the emerging role for BRAF- ± MEK1/2- targeted therapy.

Topics: Antineoplastic Agents; Brain Neoplasms; Fatal Outcome; Female; Glioblastoma; Humans; Imidazoles; MAP Kinase Kinase 1; MAP Kinase Kinase 2; Oximes; Proto-Oncogene Proteins B-raf; Pyridones; Pyrimidinones; Spinal Cord Neoplasms; Young Adult

Topics: Adult; Fatal Outcome; Female; Gene Fusion; Humans; Proto-Oncogene Proteins c-raf; Pyridones; Pyrimidinones; RNA-Binding Proteins; Sarcoma; Spinal Cord Neoplasms; Treatment Outcome