Table 10.3.
Recognized subtypes of VHL disease
| Phenotype | Genotype | ||||
|---|---|---|---|---|---|
|
|
|
||||
| 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.