63-year old male diagnosed with cerebellar hemangioblastoma, treated by resection, when he was 38 years old. He developed lumbar and thoracic spine metastasis at age of 57 for which he underwent multiple resections as well as radiation to cerebellum and spine. After further diffuse progression he was started on intravenous bevacizumab with partial mixed response and overall slowed progression rate.  Mutational analysis via MSK-IMPACT panel covering 468 common cancer mutations identified only 2 mutations: a nonsense mutation in p53 and a frameshift deletion in PKA. Additionally, no copy number alterations, structural variants, or microsatellite instability were identified.

Literature review for chemotherapy in CNS hemangioblastoma identified 38 cases (19 males, 19 females)  with (n=25) and without (n=9) VHL mutation. Bevacizumab was the most commonly used agent. Literature review for diffuse hemangioblastomatosis identified 35 cases (18 males, 17 females) with (n=19) and without (n=8) VHL mutation.