Table 2.
Clinical features of the patients
| Patient no. | Age/Sex | FLCN gene mutation | Smoking history | No. of PTX | Kidney | Skin | Thyroid | Others | Family history (no.) |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 34/M | + | Ex | 4 | - | - | NA | - | - |
| 2a | 27/F | + | Never | 2 | - | - | NA | - | PTX (1; father), BHD (1; older sister), colon cancer (1; father) |
| 3 | 50/F | NA | Current | 4 | Simple cysts (bilateral, multiple, up to 2.8 cm) | FFs | NA | Liver cyst | Skin lesion (2; father, older sister), renal transplantation (2; younger sister, older brother) |
| 4 | 48/M | - | Current | 1 | Oncocytomas (Rt, 4, up to 1.5 cm) | FFs | Nodule | Colon polyps (hamartoma, tubular adenoma*4), EGC (adenocarcinoma), GB polyp, AVM | PTX (5; father, 2 of uncle, 2 of nephew), colon cancer (1; older brother) |
| 5 | 35/F | + | Never | 3 | - | Milia | Nodule, subclinical hypothyroidism | Breast mass and cysts, ovarian cyst | - |
| 6 | 51/M | + | Ex | 0 | Chromophobe RCC (Rt, single, 1.2 cm) | Mucinosis | NA | - | - |
| 7 | 51/M | + | Ex | 1 | Chromophobe RCC (Lt, single, 1.2 cm) | + (not biopsied) | NA | - | Colon cancer (1; father) |
| 8 | 38/F | + | Current | 0 | - | AFs | NA | Breast cancer | Skin lesion, colon cancer and renal cancer (all in father), duodenal atresia (1; daughter) |
| 9a | 33/F | + | Never | 0 | - | - | NA | - | PTX (2; father, younger sister), BHD (1; younger sister), colon cancer (1; father) |
| 10 | 43/F | + | Never | 0 | - | - | Nodule (nodular hyperplasia) | Parkinson’s disease, splenic cyst | - |
| 11 | 22/F | + | Current | 2 | Simple cyst (Rt, single, 1.2 cm) | - | NA | - | PTX (1; older brother) |
| 12 | 64/F | + | Never | 2 | - | - | NA | - | PTX (1; daughter) |
FLCN, folliculin; PTX, pneumothorax; EX, ex-smoker; NA, not available; BHD, Birt-Hogg-Dubé syndrome; FF, fibrofolliculoma; Rt, right-sided; EGC, early gastric cancer; GB, gall bladder; AVM, arterio-venous malformation; RCC, renal cell carcinoma; Lt, left-sided; AF, angiofibroma.
a
Patients 2 and 9 are sisters.