Genetic Counseling in Von Hippel-Lindau Disease: Navigating the Landscape of a Well-Established Syndrome

Purpose of Review Von Hippel-Lindau disease is a multiple neoplasia syndrome that encompasses uncommon tumor types including hemangioblatoma, pheochromocytoma, renal cancer, and pancreatic neuroendocrine tumors. The disease is highly variable, and a review of the literature reinforces the need for r...

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Bibliographic Details
Published in:Current genetic medicine reports 2017, Vol.5 (2), p.66-74
Main Author: Chan-Smutko, Gayun
Format: Article
Language:English
Subjects:
Cancer
Genetic counseling
Genetic Counseling and Clinical Testing
Genetic Counseling and Clinical Testing (BS LeRoy and N Callanan
Genetic screening
Internal Medicine
Kidney cancer
Kidneys
Life span
Literature reviews
Medicine
Medicine & Public Health
Mosaicism
Neoplasia
Neuroendocrine tumors
Pancreas
Pancreatic cancer
Pheochromocytoma
Pregnancy
Qualitative research
Risk assessment
Section Editors
VHL protein
Von Hippel-Lindau disease
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Summary:Purpose of Review Von Hippel-Lindau disease is a multiple neoplasia syndrome that encompasses uncommon tumor types including hemangioblatoma, pheochromocytoma, renal cancer, and pancreatic neuroendocrine tumors. The disease is highly variable, and a review of the literature reinforces the need for referral for genetic risk assessment and counseling when a patient has any component tumor. Recent Findings Research from registry-based von Hippel-Lindau disease (VHL) populations provides new evidence of the benefits of patient compliance with close surveillance, the significantly younger age of renal cancer compared to the US population, evidence that pregnancy may not trigger new hemangioblastomas, and that the rate of new tumor growth is age and genotype dependent with the highest rates occurring between 30 and 34 years. Testing for somatic mosaicism has not moved from research to the clinical realm despite the known clinical implications for patients. Qualitative research supports observations that patients attribute stories of resilience to their medical experiences, while they also endorse that greater support is needed to help them cope with VHL-related distress. Summary The breadth of considerations in risk assessment, genetic testing, and psychosocial issues for VHL patient across the lifespan is described.
ISSN:2167-4876
2167-4876
DOI:10.1007/s40142-017-0119-4