| Von Hippel-Lindau syndrome mutation |
| Geno
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Mag
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Summary
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| (A;T)
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7
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Von Hippel-Lindau syndrome mutation
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| (C;T)
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7
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Von Hippel-Lindau syndrome mutation
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| (T;T)
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0
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common in clinvar
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This is a genotype with recommended actions if clinically confirmed. In brief:
- VHL manifestations and their severity are highly variable both within and between families, even among those with the same mutation.
- Cysts and cancers associated with Von Hippel-Lindau syndrome include: retinal angiomas (diagnosed at age 25 on average), CNS hemangioblastomas (starting at age 29-34), pancreatic lesions, and renal cysts and renal cell carcinoma (avg. age of diagnosis 40-45, and a leading cause of mortality).
- Extensive clinical surveillance is recommended, including but not limited to annual neurologic, vision, ophthalmology, and hearing evaluations, pheochromocytoma screening, blood pressure monitoring, abdominal ultrasounds, and brain and spine MRIs every 1-3 years.
- Prior to conceiving and during a pregnancy, women carrying a confirmed VHL mutation should undergo intensified surveillance for cerebellar hemangioblastomas and pheochromocytomas, including MRI without contrast of the cerebellum at four months' gestation.
- Avoid tobacco products (due to elevated kidney cancer risk).
- Consider screening relatives for any known VHL mutations and for similar clinical surveillance.
The full ClinGen Actionability report about VHL can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
