Table 10.3.
Phenotype | Genotype | ||||
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|
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Frequency of pheochromocytoma | Frequency of RCC | Common features of mutations | Examples of commonly associated mutations | ||
Type 1 | A | Low | High | Germline deletions, truncating mutations, and missense mutations affecting structural integrity of pVHL | Large deletions involving C3orf10 |
B | Low | Low | |||
Type 2 | A | High | Low | Surface missense mutations | “Black Forest” founder mutation: p.Tyr169His |
B | High | High | Missense at codon 167: p.Arg167Trp and p. ArgGln | ||
C | High* |
Type 2C manifests pheochromocytomas in absence of other tumors.