Metastasis of Renal Cell Carcinoma to Spinal Hemangioblastoma in a Patient with von Hippel–Lindau Disease: A Case Report

Abstract

von Hippel-Lindau (VHL) disease is characterized by neoplastic and cystic lesions, such as central nervous system (CNS) hemangioblastoma and clear cell renal cell carcinoma (RCC), arising in multiple organs. Here, we report a case of an RCC that metastasized to a spinal hemangioblastoma in a patient diagnosed with VHL disease. This is a unique case study because visceral neoplasms rarely metastasize to the CNS. The patient had undergone posterior fossa surgery for the removal of hemangioblastomas in the right cerebellar hemisphere as a child. He was diagnosed with RCC at the age of 20 years, and he underwent partial nephrectomy at the age of 35 years. The patient underwent surgical removal of a spinal tumor from Th8, which was also diagnosed as a hemangioblastoma at the age of 40. However, the residual spinal tumor rapidly regrew within 1.5 years. A second surgery was performed due to progressive leg motor weakness. The resected tumor from the second surgery had two distinct components between the tumor center and the margin. Immunohistochemistry of CD10, PAX 8, and inhibin A demonstrated the predominant region of the tumor was RCC. Pathological findings confirmed tumor-to-tumor metastasis of the RCC migrating into residual spinal hemangioblastoma. It can be challenging to distinguish hemangioblastoma from RCC in neuroimaging. We suggest that tumor-to-tumor metastasis should be considered as a differential diagnosis if benign tumors grow rapidly, even if the pathological diagnosis does not initially confirm malignancy. The biological mechanisms of RCC migrating into residual hemangioblastoma are discussed.

Supratentorial Collision Tumor of Hemangioblastoma and Metastatic Clear Cell Renal Cell Carcinoma in a Patient with von Hippel-Lindau Disease

“…Although patients with VHL syndrome often present with multi-organ tumor syndromes, collision tumors are rarely reported in patients with VHL disease, especially in the brain. A total of 23 patients (14 female and 9 male) with collision tumors composed of hemangioblastoma and metastatic clear cell RCC have been reported, including our patient (Table 1) [17][18][19][20][21][22][23][24][25][26][27][28][29][30][31] the most common site of this collision tumor (12/23, 52%, 5 cervical, 5 thoracic, 1 lumbar, and 1 sacral), followed by the cerebellum (8/23, 35%), medulla oblongata (1/23), and intracranial lateral ventricular trigone (1/23). Intracranially, the collision tumor of hemangioblastoma and metastatic clear cell RCC frequently develops in the cerebellum (8/10, 80%), however, the collision tumor we reported is located in the supratentorial lateral ventricular trigone, which is extremely rare.…”

“…Although patients with VHL syndrome often present with multi-organ tumor syndromes, collision tumors are rarely reported in patients with VHL disease, especially in the brain. A total of 23 patients (14 female and 9 male) with collision tumors composed of hemangioblastoma and metastatic clear cell RCC have been reported, including our patient (Table 1) [17‒31]. The mean age at diagnosis of collision tumor is 47.09 years old (28–73 years), and the median age is 46 years old.…”