Chordoma and hemangioblastoma occurring in von Hippel‐Lindau disease

Von Hippel‐Lindau (vHL) disease is an autosomal dominant, multisystem disorder characterized by susceptibility to retinal and central nervous system (CNS) hemangioblastomas, renal cell carcinoma, pheochromocytoma, pancreatic endocrine tumors, endolymphatic sac tumor, and cysts in multiple organs caused by mutation or deletion of the VHL gene on chromosome 3p25. Although other CNS neoplasms have rarely been described in this syndrome, chordoma has not been previously reported in patients with vHL disease. Herein we report the case of a 17 year‐old woman who presented with intractable headaches for two weeks. Her father had had a brain lesion removed as a young adult and had lived for twenty years before succumbing to metastatic renal cell carcinoma, and he was believed to have had vHL disease. The patient's imaging studies revealed an enhancing prepontine cistern mass which intraoperatively appeared to involve the adjacent clivus. This lesion was composed of cords of cells with eosinophilic cytoplasm surrounded by a mucoid matrix. Physaliferous cells were also present, and a diagnosis of chordoma was rendered. Three years later a cystic, enhancing lesion in the right cerebellar hemisphere was discovered on routine follow‐up. This lesion was resected. Microscopically, it was a richly vascular tumor composed of numerous stromal cells with microvacuolar, lipidized cytoplasm. This lesion was inhibin‐positive and epithelial membrane antigen‐negative, confirming the diagnosis of hemangioblastoma. To our knowledge, this is the first case of chordoma reported in the setting of vHL disease. Interestingly, a subset of cases of sporadic chordoma have been reported to show deletions of chromosome 3p, providing a possible explanation for the occurrence of chordoma in the setting of vHL disease.