Table 1. Demographics of patients with AST patients.
Patient | Gender | Age | Pathological diagnosis | # of lesions | Tissue* | Location | Somatic mutation(Fractional abundance §) |
---|---|---|---|---|---|---|---|
1 †, ‡ | F | 11 | AST | 1 | im | calf | ND |
2 †,‡ | M | 34 | AST | 1 | im | shoulder | PI3KCA p.E542K (WTL: 10.25; EC: 50.65; SC: none) |
3 †,† | M | 16 | AST | 1 | im | calf | PI3KCA p.H1047R (WTL: 18.80; EC: 44.00; SC: none) |
4 †, ‡ | F | 16 | AST | 1 | sc | shin | PI3KCA p.H1047L (WTL: 8.30; EC: 48.95; SC: none) |
5† | F | 17 | AST | 1 | im | back | ND |
6 | M | 34 | AST | 1 | im | thigh | ND |
7 | M | 17 | AST | 1 | im | thigh | PI3KCA p.E542K (WTL: 7.32) |
8 | F | 31 | AST | 1 | im | thigh | PI3KCA p.H1047R (WTL: 5.07) |
9 | F | 22 | AST | 1 | im | thigh | PI3KCA p.H1047R (WTL: 13.10) |
10 | F | 13 | AST | 1 | im, sc | foot | PI3KCA p.E545K (WTL: 11.65) |
11 | M | 19 | AST | 1 | im | thigh | PI3KCA p.H1047R (WTL: 8.89) |
12 | M | 13 | AST | 1 | im, sc | ankle | PI3KCA p.H1047R (WTL: 12.60) |
13 | F | 23 | AST | 1 | im | calf | PIK3CA p.Y644H ¶ |
14 | F | 41 | AST | 1 | sc | shin | ND |
15 | F | 25 | AST | 1 | im | foot | PI3KCA p.E545K (WTL: 8.93) |
16 | F | 16 | AST | 1 | im, sc | ankle | PI3KCA p.H1047R (WTL: 5.98) |
17 | F | 46 | AST | 1 | im, sc | back | PI3KCA p.E542K (WTL: 9.83) |
18 | F | 18 | AST | 1 | im, sc | ankle | PI3KCA p.E545K (WTL: 11.35) |
19 | F | 13 | AST | 1 | im | calf | ND |
20 | F | 24 | AST | 1 | im, sm | thigh | PI3KCA p.E542K (WTL: 5.64) |
Tissue: im, intramuscular; sc, subcutaneous; sm, synovial membrane.
ECs and SCs isolated for cell experiments.
used in RNA-seq experiment.
Fractional abundance of the mutation in WTL, whole tissue lysate; EC, endothelial cells; SC, intervascular stromal cells; ND, not detected.
mutation detected by whole-exome sequencing.