| Syndrome abbreviations |
Mutation loci |
Pathological type |
Clinical manifestations |
| VHL |
VHL |
ccRCC |
ccRCC, pheochromocytoma, pancreatic renal cyst, neurologic retinal hemangioblastoma, paraganglioma, pancreatic endocrine tumor, lymphatic sac tumor, epididymal adenoma |
| HPRC |
MET |
pRCC I |
pRCC |
| BHD |
FLCN |
multiple RCCs |
Suspected pheochromocytoma, mixed pheochromocytoma, fibrocystic tumor, dermatome, pulmonary cyst, pneumothorax |
| HLRCC |
FH |
pRCC Ⅱ |
pRCC, cutaneous uterine smooth muscle tumor, uterine smooth muscle sarcoma |
| SDH RCC |
SDHB, SDHD, SDHC |
ccRCC, chromophobe RCC |
ccRCC, suspensory cell, eosinophilic, pheochromocytoma, paraganglioma |
| cowden syndrome |
PTEN |
ccRCC |
ccRCC, breast cancer, follicular thyroid cancer, endometrial cancer |
| MITF-associated tumors |
MITF |
RCC |
Melanoma, PECOMA |
| HPT-JT |
HRPT2 |
Nephroblastoma |
Multiple RCC, nephroblastoma, hyperparathyroidism, thyroid cancer |
| BAP1-associated tumors |
BAP1 |
ccRCC |
ccRCC, uveal melanoma, melanoma, mesothelioma |
| Chromosomal translocation [t(3;8), t(2;6)]-associated tumors |
FHIT/FRA3B on chr3, RNF139 on chr8 |
ccRCC |
ccRCC, papillary thyroid carcinoma |
Note: VHL, Hippel-Lindau disease; ccRCC, clear cell renal cell carcinoma; HPRC, hereditary papillary renal carcinoma; pRCC, papillary renal cell carcinoma; BHD, Burt-Hogg-Dubb syndrome; HLRCC, hereditary smooth muscle disease and renal cell carcinoma; HPT-JT, hyperparathyroidism-jaw tumor.