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

  • Genetic Counseling and Clinical Testing (BS LeRoy and N Callanan, Section Editors)
  • Published:
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Abstract

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.

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Authors and Affiliations

  1. Massachusetts General Hospital Cancer Center, 55 Fruit Street, Yawkey 10B, Boston, MA, 02114, USA

    Gayun Chan-Smutko

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  1. Gayun Chan-Smutko
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Correspondence to Gayun Chan-Smutko.

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This article is part of the Topical Collection on Genetic Counseling and Clinical Testing

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Chan-Smutko, G. Genetic Counseling in Von Hippel-Lindau Disease: Navigating the Landscape of a Well-Established Syndrome. Curr Genet Med Rep 5, 66–74 (2017). https://doi.org/10.1007/s40142-017-0119-4

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  • DOI: https://doi.org/10.1007/s40142-017-0119-4

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