1.
Common hereditary RCC and its clinical manifestations
| Syndrome abbreviation | Mutation point | Pathology type | Clinical manifestations |
| RCC, renal cell cancer; VHL, von Hipple-Lindau syndrome; ccRCC, clear cell renal cell carcinoma; HPRC, hereditary papillary renal carcinoma; pRCC, papillary renal cell carcinoma; BHD, Birt-Hogg-Dube’ syndrome; HLRCC, hereditary leiomyomatosis and RCC. | |||
| VHL | VHL | ccRCC | ccRCC, pheochromocytoma, pancreatic and renal cysts, retinal hemangioblastoma of nervous system, paraganglioma, pancreatic endocrine tumor, lymphatic cystic tumor, adenoma of epididymis |
| HPRC | MET | pRCC I | pRCC |
| BHD | FLCN | Multi-RCC | Chromophobe tumor, mixed eosinophilic tumors, fibrofoliculom, cutaneous tag, pulmonary cyst, pneumothorax, |
| HLRCC | FH | pRCC II | pRCC, cutaneous uterine leiomyoma, uterus leiomyosarcoma |
| SDH RCC | SDHB, SDHD, SDHC | ccRCC,
chromophobe RCC |
ccRCC, chromophobe, eosinophilic pheochromocytoma, paraganglioma |
| cowden syndrome | PTEN | ccRCC | ccRCC, breast cancer, follicular thyroid cancer, endometrial cancer |
| MITF related tumor | MITF | RCC | Melanoma, PECOMA |
| HPT-JT hyperparathyroidism-jaw tumors | HRPT2 | Wilms tumor | Multi-RCC, wilm’s tumor, hyperparathyroidism, cancerous goiter |
| BAP1 related tumor | BAP1 | ccRCC | ccRCC, uveal melanoma, melanoma, mesothelioma |
| Translocation [t (3;8), t (2;6)] related tumors | FHIT/FRA3B on chr3, RNF139 on chr8 | ccRCC | ccRCC, thyroid papillary carcinoma |