Von Hippel-Lindau Syndrome
Associated Genetic Biomarkers
NCI Definition: An inherited familial cancer syndrome which is characterized by development of capillary hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma; pheochromocytoma; pancreatic tumors; and inner ear tumors. The syndrome is associated with germline mutations of the VHL tumor suppressor gene, located on chromosome 3p25-26. Symptoms of VHL syndrome may not be apparent until the third decade of life. CNS hemangioblastoma is the most common cause of death, followed by clear cell renal cell carcinoma. --2004 
There are 4 clinical trials for von Hippel-Lindau syndrome, of which 3 are open and 1 is completed or closed. Of the trials that contain von Hippel-Lindau syndrome as an inclusion criterion, 1 is phase 1/phase 2 (0 open) and 3 are phase 2 (3 open).
VHL is the most frequent gene inclusion criterion for von Hippel-Lindau syndrome clinical trials .
Pt2977 and pazopanib are the most common interventions in von Hippel-Lindau syndrome clinical trials.
Significant Genes in Von Hippel-Lindau Syndrome
VHL is an inclusion eligibility criterion in 3 clinical trials for von Hippel-Lindau syndrome, of which 2 are open and 1 is closed. Of the trials that contain VHL status and von Hippel-Lindau syndrome as inclusion criteria, 1 is phase 1/phase 2 (0 open) and 2 are phase 2 (2 open) .
2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.