Table 4 Malformations, tumors, and other manifestations in patients with rare manifestations
Tumors and cystic lesions, n (%) n = 268 | Malformations, n (%) n = 124 | Others, n (%) n = 15 | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Tumors n = 248 | Cystic lesions n = 20 | Overall n = 119 | Vascular malformations n = 5 | Others* n = 9 | Endocrine dysfunctions n = 6 | |||||||
Median age at diagnosis, years (range) | 28 (0–69) | 27 (10–62) | 11 (0–50) | 24.5 (0–50) | 9.5 (0–48) | 31.5 (2–48) | ||||||
Sex | Male | Female | Male | Female | Male | Female | Male | Female | Male | Female | Male | Female |
98 (39.5) | 150 (60.5) | 4 (20) | 16 (80) | 61 (51.3) | 58 (48.7) | 1 (20.0) | 4 (80.0) | 4 (44.4) | 5 (55.6) | 3 (50) | 3 (50) | |
Mutation type | TSC1 | TSC2 | TSC1 | TSC2 | TSC1 | TSC2 | TSC1 | TSC2 | TSC1 | TSC2 | TSC1 | TSC2 |
27 (26.2) | 76 (73.8) | 3 (23.1) | 10 (76.9) | 8 (14.8) | 46 (85.2) | 1 (100) | 0 | 1 (14.3) | 6 (85.7) | 0 | 3 (100) | |
Treatment | 40 (16.2) | 1 (5.0) | 26 (21.8) | 3 (60.0) | 5 (55.6) | 4 (66.7) | ||||||