Familial adult renal neoplasia
| Molecular genetics | Clinical features | |||
|---|---|---|---|---|
| Disease | Gene location/translocation | Gene | Main lesions | Other associated lesions |
| Von Hippel-Lindau disease (VHL) | 3p25 | VHL | Retinal haemangioma, CCRCC, cerebellar haemangioblastoma, phaeochromocytoma | Endocrine pancreatic tumours, epididymal cystadenoma |
| Familial non-VHL CCRCC with chromosome 3 translocation | 3p14 | FHIT | CCRCC | Thyroid cancer, bladder cancer, pancreatic cancer, gastric cancer |
| 3q13.3 | Unknown | |||
| 3q21 | Unknown | |||
| Familial non-VHL CCRCC without chromosome 3 translocation | Unknown | Unknown | CCRCC | |
| Hereditary papillary RCC (HPRC) | 7q34 | c-MET | PRCC (type 1) | Breast cancer, pancreatic cancer, biliary tract cancer, lung cancer, malignant melanoma |
| Hyperparathyroidism-jaw tumour (HPT-JT) | 1q21-q32 | Unknown | Parathyroid adenoma/carcinoma, ossifying jaw tumours | Renal cysts, renal hamartoma, adult Wilms tumours, PRCC (type 1) |
| Tuberous sclerosis complex (TSC) | 9q34 | TSC1 | Renal angiomyolipoma, rhabdomyoma | CCRCC |
| 16p13.3 | TSC2 | |||
| Birt-Hogg-Dube syndrome (BHD) | 17p12-q11.2 | Unknown | Multiple fibrofolliculoma trichodiscoma, renal oncocytoma, chromophobe RCC | PRCC (type 1), CCRCC, multiple lipoma, pulmonary cysts |
| Hereditary leiomyomatosis and renal cell cancer (HLPRC) | 1q42-q44 | Unknown | Uterine leiomyoma, PRCC (type 2) | Uterine leiomyosarcoma, skin leiomyoma, breast cancer, bladder cancer |
| Familial papillary thyroid carcinoma-papillary renal neoplasia (FPTC-PRN) | 1q21 | Unknown | Papillary thyroid carcinoma | PRCC (type 1), papillary renal adenoma, renal oncocytoma |
| Familial oncocytoma (FO) | Unknown | Unknown | Renal oncocytoma, renal cyst | |
| Hereditary non-polyposis colorectal cancer (HNPCC) | 2p22-p21 | hMSH2 | Colorectal cancer, endometrial cancer | Gastric cancer, ovarian cancer, hepatobiliary cancer, renal pelvic and ureteral cancer (transitional cell), small intestine cancer |
| 3p22-p21 | hMLH1 | |||
| 2q31-q33 | hPMS1 | |||
| 7p22 | hPMS2 | |||
| 2p16 | hMSH6 | |||