Table 1 Clinical and molecular genetic summary of the patients
Case | Age/Sex | Location | Duration | Clinical diagnosis | Symptom | PIK3CA mutation | Other mutations |
|---|---|---|---|---|---|---|---|
1 | 3/M | Knee | 3 years | Infantile hemangioma | Pain, increased swelling | p.H1047R | PTEN (c.63dupG) |
2 | 15/M | Thigh muscle | 3 months (After Sclerotherapy) | Vascular malformation | Pain, functional restriction, increased swelling, | p.H1047R | TEK (p.W189*), GNA11 (p.E191K), AKT1 (p.R15Q, p.Y229=), PTEN (c.63dupG), HRAS (p.R102W) |
3 | 13/M | Thigh muscle | 13 years | Venous malformation | Pain, increased swelling | No mutation | No mutation |
4 | 12/M | Thigh muscle | 6 months | Venous malformation or FAVA | Pain, functional restriction | No mutation | TEK (p.R842H) |