Table 1 Summary of clinical manifestations and identified PIK3CA variants in patients with Klippel–Trenaunay syndrome
Patient | Sex | Age (years)* | Lesions resected | Specimen | Identified variants | VAF | Diagnoses | Types of CM | Lower limb discrepancy in | Macrodactyly | Previous treatments | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Length | Girth | |||||||||||
1 | M | 36 | Thigh | Skin, SC | C420R | 1.6% | CLVM | Geographic | − | Rt > Lt | Rt | PR, Sc |
2 | F | 14 | Abdomen | Skin, SC | E542K | 3.3% | CLVM | − | − | Rt > Lt | − | PR, Sc, TAE |
3 | F | 57 | Lower leg | Skin, SC | E542K | 10.9% | CVM | Geographic | Lt > Rt | Lt > Rt | Lt | PR, Sc |
4 | F | 6 | Knee | Skin, SC | E545K | 7.5% | CLVM | Geographic | Lt (ED) > Rt | Lt > Rt | Lt | PR, HL, Sc, TAE |
5 | F | 16 | Abdomen | SC | E545K | 12.7% | CLVM | Geographic | − | Lt > Rt | − | PR, Sc, TAE |
6 | M | 7 | Lower leg | SC | Q546R | 3.9% | CLVM | Geographic | Rt (ED) > Lt | Lt > Rt | Bilateral | PR, HL, Sc |
7 | F | 26 | Foot | SC | Q546R | 5.9% | CVM | Geographic | Rt > Lt | Rt > Lt | − | HL, Sc |
8 | M | 25 | Foot | SC | Q546K | 2.3% | CVM | − | − | Rt > Lt | − | Sc |
9 | F | 17 | Knee | Skin, SC | H1047R | 17.4% | CVM | Geographic | Rt > Lt | Rt > Lt | − | PR, Sc, TAE |
10 | F | 5 | Knee | Skin, SC | H1047R | 1.6% | CVM | − | − | Rt > Lt | − | − |
11 | F | 22 | Thigh | SC, M | H1047R | 8.1% | CVM | − | − | Lt > Rt | − | PR, Sc |
12 | M | 11 | Buttock | Skin, SC | H1047L | 7.8% | CLVM | Geographic | Lt > Rt | Lt > Rt | Lt | PR, Sc, TAE |
13 | F | 13 | Lower leg | SC | − | − | CVM | − | Rt > Lt | Rt > Lt | − | HL, Sc, TAE |
14 | M | 11 | Lower leg | Skin, SC | − | − | CVM | − | − | Lt > Rt | − | PR, Sc |