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. 2023 May 18;12:e82543. doi: 10.7554/eLife.82543

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.