Table 2.
Clinical presentation of each case with identified VHL, RET, and SDHB gene mutations.
| Gene | Mutation | Age of diagnosis, y | Sex | Family history | Phenotype |
|---|---|---|---|---|---|
| VHL | p.Trp88X | 43 | M | + | CHB, RCC, pancreatic cyst, epididymal cyst |
| p.Ile151Thr | 30 | M | − | CHB, RCC, pancreatic cyst | |
| p.Ile151Thr | 37 | M | − | CHB, RCC, renal cyst, pancreatic cyst, epididymal cyst | |
| p.Arg161X | 41 | F | + | CHB, RCC, pancreatic cyst | |
| p.Arg161X | 39 | M | + | CHB, RCC, pancreatic cyst | |
| p.Arg161X | 67 | M | + | CHB, RCC, pancreatic cyst | |
| p.Arg161X | 32 | M | + | CHB, RCC, pancreatic cyst | |
| p.Arg161X | 29 | F | + | CHB, RCC, pancreatic cyst | |
| p.Arg167Gln | 32 | F | − | Bilat. pheo., pancreatic NET, RCC | |
| p.Arg167Gln | 33 | F | − | Bilat. pheo., CHB, pancreatic NET | |
| p.Leu178Arg | 51 | M | − | Retinal/cerebellar/spinal hemangioblastoma, pancreatic cyst | |
| RET | p.Cys634Arg | 27 | F | − | Bilat. pheo., MTC |
| p.Cys634Arg | 23 | F | − | MTC | |
| p.Cys634Tyr | 21 | F | + | Unilat. pheo., MTC, CCH | |
| p.Cys634Tyr | 40 | F | + | Bilat. pheo., MTC, CLA | |
| p.Cys634Tyr | 35 | F | + | Bilat. pheo., MTC | |
| p.Cys634Tyr | 51 | M | + | Unilat. pheo., microMTC, CCH | |
| p.Cys634Tyr | 22 | M | + | CCH | |
| p.Cys634Trp | 23 | M | − | MTC | |
| p.Met918Thr | 26 | M | +? | MTC, marfanoid habitus, mucosal neuromas | |
| SDHB | p.Arg46X | 29 | M | − | Malignant thoracic paraganglioma |
Abbreviations: bilat., bilateral; CCH, c-cell hyperplasia; CHB, hemangioblastomas of the central nervous system; CLA, cutaneous lichen amyloidosis; F, female; micro, microcarcinoma; M, male; MTC, medullary thyroid carcinoma; NET, neuroendocrine tumor; pheo., pheochromocytomas; RCC, renal cell carcinomas; unilat., unilateral; VHL, von Hippel-Lindau; X, stop codon.