Comprehensive Management of Von Hippel-Lindau Disease: Genetic and Oncological Perspectives

STATEMENT OF NEED
Von Hippel-Lindau disease (VHL) is an autosomal dominant disease in which germline pathogenic variants in the VHL gene predispose individuals to specific types of benign tumors, malignant tumors, and cysts in multiple organs, including clear cell renal cell carcinoma (RCC), renal cysts, central nervous system hemangioblastomas, retinal hemangioblastomas, pancreatic tumors and cysts, endolymphatic sac tumors, and cystadenomas of the epididymis and broad ligament (NIH, 2024). Clinical manifestations and disease severity vary among individuals, and tumors and cysts can cause increased pain and pressure on surrounding structures as they grow (NORD, 2023). Due to its multisystemic complexity, care of individuals with VHL requires involvement of clinicians across the interprofessional team, including genetic counselors, medical geneticists, general surgeons, urologic oncologists and surgeons, neurologists and neurosurgeons, medical oncologists, ophthalmologists, and endocrinologists (NIH, 2024). Improved understanding of molecular biology, early intervention therapies, and development of targeted systemic therapies are needed in order to optimize the management of VHL in its varying manifestations (NIH, 2024). In this activity, Dr. Eric Jonasch, Professor in the Department of Genitourinary Medical Oncology at the University of Texas MD Anderson Cancer Center, will provide genetic and oncological perspectives to inform the comprehensive management of patients with VHL.

TARGET AUDIENCE
Medical geneticists, genetic counselors, medical oncologists, nurse practitioners, physician associates/assistants, and oncology nurses involved in the treatment of patients with von Hippel-Lindau (VHL) disease.

LEARNING OBJECTIVES
Upon completion of this activity, participants should be able to

Recognize the diverse clinical presentations of VHL disease"associated tumors across different organ systems
Discuss the capabilities and limitations of current genetic testing techniques for VHL disease
Evaluate the latest evidence on novel and emerging therapies for VHL disease"associated tumors
Apply expert strategies to clearly communicate complex genetic information to patients and family members during counseling sessions