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Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®)

  • Posted: 11/01/2013
  • Updated: 08/01/2014

Table 4. Diagnostic Approaches to von Hippel-Lindau Syndrome (VHL) in Individuals With and Without a Family History

Family History of VHL  Genetic Testing  Clinical Diagnosis Requirements for Clinical Diagnosis 
With a family history of VHL Test DNA for the same VHL gene mutation as previously identified in affected biologic relative(s)When VHL gene mutation is unknown for a biologic relativeOne or more of the following is required for a clinical diagnosis:
- Epididymal or broad ligament cystadenomas
- CNS hemangioblastoma
- ccRCC, multifocal
- Pheochromocytoma
- Retinal angiomas
- Pancreatic neuroendocrine tumor
- Pancreatic cysts and/or cystadenomas
- Endolymphatic sac tumor
Without a family history of VHL May be negative if the VHL mutation occurred postzygotically (e.g., VHL mosaicism)When VHL mutation is unknown or germline negative, but there are clinical signs compatible for VHLEither or both of the following are required for a clinical diagnosis:
- CNS hemangioblastoma
- Retinal angiomas
If only one of the above is present, then also one of the following:
- ccRCC
- Pheochromocytoma
- Pancreatic cysts and/or cystadenomas
- Endolymphatic sac tumor
- Epididymal or broad ligament cystadenomas

CNS = central nervous system; ccRCC = clear cell renal cell cancer; VHL = von Hippel-Lindau syndrome.
Adapted and updated from Glenn et al., 1991 [7] and Pithukpakorn & Glenn, 2004.[6]

References

  1. Pithukpakorn M, Glenn G: von Hippel-Lindau syndrome. Community Oncology 1 (4): 232-43, 2004. 

  2. Glenn GM, Daniel LN, Choyke P, et al.: Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus. Hum Genet 87 (2): 207-10, 1991.  [PUBMED Abstract]