A patient with Von Hippel-Lindau Syndrome may be classified based on the the type of mutation and the pattern of tumors present.
Parameters:
(1) type of mutation
(2) pheochromocytoma or extra-adrenal paraganglioma
(3) renal cell carcinoma and CNS hemangioblastoma
Type
Mutation
Pheochromocytoma
Type 1
truncating mutation and large deletions
absent/rare
Type 2
missense
present
Subtype 2
Renal Cell Carcinoma
Hemangioblastoma
2A
absent
2B
2C
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Specialty: Hematology Oncology, Genetics, Surgery, general
