Table 2. Demographics of patients with VM.
| Patient | Gender | Age | Pathological diagnosis | # of lesions | Tissue* | Location | Somatic mutation(Fractional abundance in whole tissue lysate) § | |
|---|---|---|---|---|---|---|---|---|
| 21 | M | 34 | VM | 1 | im | thigh | TEK p.Y1108X ¶ | |
| 22 ,†, ‡ | F | 77 | VM | 6 | sc | neck, fossa cubitalis, chest, hip, big toe | TEK p.L914F (5.63) | |
| 23 | M | 40 | VM | 2 | im | chest, back | ND | |
| 24 | F | 69 | VM | 3 | im, sc | forearm **, hand | TEK p.L914F (10.01) | |
| 25 | M | 24 | VM | 2 | sc | ankle, sole | PI3KCA p.H1047L (3.83) | |
| 26 | M | 14 | VM | 1 | sc | lip | TEK p.L914F (16.31) | |
| 27 | F | 39 | VM | 1 | im | chest | ND | |
| 28 | M | 28 | VM | 1 | sc | clavicle | TEK p.L914F (5.95) | |
| 29 | M | 46 | VM | 1 | sc | shin | ND | |
| 30 | M | 31 | VM | 1 | sc | knee | TEK p.L914F (10.60) | |
| 31 | F | 21 | VM | 1 | im, sc, sm | knee | ND | |
| 32 | M | 16 | VM | 1 | im, sc, sm | thigh, knee | ND | |
| 33 | M | 9 | VM | 1 | sc, sm | knee | ND | |
| 34 | F | 35 | VM | 1 | im, sc | blade | TEK p.L914F (12.10) | |
| 35 | F | 16 | VM | 1 | sc | ankle | PI3KCA p.E545K (4.34) | |
| 36 | M | 21 | VM/AST | 1 | im | upper arm | PI3KCA p.H1047R (3.91) | |
| 37 | F | 41 | VM/AST | 1 | sc | ankle | KRAS p.Q61R ¶ | |
| 38 | F | 25 | VM/AST | 1 | sc | calf, leg | PI3KCA p.H1047L (5.23) | |
*
Tissue: im, intramuscular; sc, subcutaneous; sm, synovial membrane.
†
ECs and SCs isolated for cell experiments.
‡
used in RNA-seq experiment.
§
ND, not detected.
¶
mutation detected by whole-exome sequencing.
**
The patient had multiple lesions but only a lesion located in the forearm was operated.