Table 3 Abdominal findings in TSC patients grouped by sex and gene
From: Prevalence of thoracoabdominal imaging findings in tuberous sclerosis complex
| Â | Renal cysts | Renal fat-containing AML | Renal lipid-poor AML | Any renal AML | Renal cell carcinoma | Renal aneurysm | Hepatic cyst | Hepatic AML | Hepatic steatosis | Hepatic mass | Spleen hamartoma | Spleen cyst |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Total (N = 649) | 467 (72%) | 334 (51%) | 178 (27%) | 385 (59%) | 0 (0%) | 8 (1%) | 79 (12%) | 125 (19%) | 13 (2%) | 8 (1%) | 8 (1%) | 23 (4%) |
Sex, N (%) | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Male (N = 306) | 225 (74%) | 135 (44%) | 82 (27%) | 163 (53%) | 0 (0%) | 2 (1%) | 31 (10%) | 45 (15%) | 5 (2%) | 1 (0%) | 3 (1%) | 12 (4%) |
Female (N = 343) | 242 (71%) | 199 (58%) | 96 (28%) | 222 (65%) | 0 (0%) | 6 (2%) | 48 (14%) | 80 (23%) | 8 (2%) | 7 (2%) | 5 (1%) | 11 (3%) |
Gene, N (%) | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
TSC1 (N = 59) | 33 (56%) | 14 (25%) | 6 (10%) | 16 (27%) | 0 (0%) | 0 (0%) | 5 (8%) | 2 (3%) | 4 (7%) | 0 (0%) | 0 (0%) | 2 (3%) |
TSC2 (N = 289) | 224 (78%) | 128 (44%) | 89 (31%) | 156 (54%) | 0 (0%) | 2 (1%) | 28 (10%) | 48 (17%) | 4 (1%) | 3 (1%) | 4 (1%) | 8 (3%) |
NMI (N = 59) | 36 (61%) | 28 (47%) | 10 (17%) | 30 (51%) | 0 (0%) | 0 (0%) | 5 (8%) | 3 (5%) | 2 (3%) | 1 (2%) | 0 (0%) | 2 (3%) |
TSC1/TSC2 (N = 8) | 6 (75%) | 3 (38%) | 3 (38%) | 4 (50%) | 0 (0%) | 0 (0%) | 1 (13%) | 1 (13%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (13%) |
Positive but unknown (N = 9) | 7 (78%) | 5 (56%) | 2 (22%) | 6 (67%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 (22%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (11%) |
Not Tested (N = 225) | 161 (72%) | 156 (69%) | 68 (30%) | 173 (77%) | 0 (0%) | 6 (3%) | 40 (18%) | 69 (31%) | 3 (1%) | 4 (2%) | 4 (2%) | 9 (4%) |
| Â | Adrenal AML | Adrenal adenoma | Pancreatic cyst | Pancreatic AML | Pancreas neuroendocrine tumor | Abdomen sclerotic bone lesion | Abdominal aneurysm | Abdominal vascular stenosis | Abdominal lymphatic malformation | Abdominal PEComa |
|---|---|---|---|---|---|---|---|---|---|---|
Total (N = 649) | 8 (1%) | 3 (0%) | 13 (2%) | 3 (0%) | 7 (1%) | 98 (15%) | 5 (1%) | 2 (0%) | 8 (1%) | 1 (0%) |
Sex, N (%) | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Male (N = 306) | 3 (1%) | 0 (0%) | 5 (2%) | 1 (0%) | 5 (2%) | 35 (11%) | 2 (1%) | 0 (0)%) | 0 (0)%) | 0 (0)%) |
Female (N = 343) | 5 (1%) | 3 (1%) | 8 (2%) | 2 (1%) | 2 (1%) | 63 (18%) | 3 (1%) | 2 (1%) | 8 (2%) | 1 (0%) |
Gene, N (%) | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
TSC1 (N = 59) | 1 (2%) | 1 (2%) | 0 (0%) | 0 (0%) | 1 (2%) | 8 (14%) | 1 (2%) | 0 (0%) | 0 (0%) | 0 (0%) |
TSC2 (N = 289) | 2 (1%) | 1 (0%) | 8 (3%) | 0 (0%) | 2 (1%) | 32 (11%) | 2 (1%) | 2 (1%) | 5 (2%) | 1 (0%) |
NMI (N = 59) | 0 (0%) | 0 (0%) | 1 (2%) | 0 (0%) | 0 (0%) | 6 (10%) | 1 (2%) | 0 (0%) | 0 (0%) | 0 (0%) |
TSC1/TSC2 (N = 8) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
Positive but unknown (N = 9) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
Not Tested (N = 225) | 5 (2%) | 1 (0%) | 4 (2%) | 3 (1%) | 4 (2%) | 52 (23%) | 1 (0%) | 0 (0%) | 3 (1%) | 0 (0%) |