Table 1.
Clinical characteristics of BHD patients with germline FLCN H255Y and FLCN K508R mutations
| Case/Gender | Germline mutation | Age at surgery | Number of tumours removed | Histology | Somatic 2nd hit mutation | Number of tumours tested | Clinical manifestations |
|---|---|---|---|---|---|---|---|
| Case 1/female | c.763 C>T p.H255Y | 60y | 3a | Chromophobe RCC | ND | ND | Fibrofolliculomas, Lung cysts, Liver cysts |
| 62y | 3 | Hybrid oncocytic tumour | c.1432 + 1 G >T (1 tumour) | 2 | |||
| Case 2/male | c.1523A>G p.K508R | 25y | 22 | Papillary RCC type 1 | None | 4 | TAR syndrome, Mitral valve vegetations, Anti-phospholipid syndrome |
| Case 3/male | c.1523A>G p.K508R | 60y | 5 | Oncocytoma, oncocytosis, papillary adenomas | None | 2 | Hypertension, Gastroesophageal reflux, Gout, Hyperlipidemia, BPH, Irritable bowel |
| 61y | 3 | Oncocytoma with focus of papillary RCC type 1 | None | 1 |
N.D., not determined; RCC, renal cell carcinoma.
Numbering according to GenBank Accession No. NM_144997.5 with A of initiator codon designated as nucleotide1.
a
First surgery of Case 1 was performed at an outside institution.