Friday, 6 June 2014

VHL disease subtypes

VHL disease subtypes

VHL disease can be subdivided according to the clinical manifestations, although these groups often correlate with certain types of mutations present in the VHL gene.

Type 1

Type one often has deletion ornonsense mutations. This group manifests mostly as hemangioblastomas whereas clear-cell renal carcinomas and pheochromocytomas are rare.

Type 2

Type 2 VHL disease is subdivided into Type 2A, B and C which are characterised mostly by missense mutations. Type 2A is at risk of hemangioblastomas and pheochromocytomas, but not clear-cell renal carcinomas. Type 2B is at risk of all three tumours, with a higher risk of clear-cell renal carcinoma. Type 2C is at risk for only pheochromocytoma.

Type 3

Type 3 VHL disease has a risk of Chuvash polycythaemia.

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