Introduction
Results
Isolation and characterization of endothelial cells from tissue and blood derived from VM lesions
Patient ID | VM location | Age at collection (years) | Sex | Endothelial cell source | Date obtained | PIK3CA mutation | TIE2 mutation | Presence in blood or saliva | Mutant allelic frequency in VM–EC |
---|---|---|---|---|---|---|---|---|---|
1 | Leg | 15 | F | Tissue | 1/7/14 | L914F | n/a | 128/273 (46.9%) | |
A | Thigh | 4 | F | Lesion Blood | 5/8/15 | L914F | n/a | n/a | |
C | Hip, pelvis, perineum, leg | 15 | F | Lesion Blood | 8/25/15 | L914F | No | n/a | |
D | Lower extremity IM | 18 | F | Lesion Blood | 10/13/15 | H1047R | No | n/a | |
E | Calf IM | 18 | F | Lesion Blood | 11/10/15 | C420R | No | 34/57 (59.6%) | |
9 | Buttock, knee, leg | 9 | M | Tissue | 8/22/14 | L914F | n/a | n/a | |
11 | Arm | 3 | M | Tissue | 12/22/16 | L914F | n/a | n/a | |
G | Chest | 20 | F | Lesion Blood | 4/13/16 | L914F | No | n/a | |
K | Thigh, calf, ankle | 12 | F | Lesion Blood | 3/4/17 | Q546K | R915C | No | n/a |
TIE2 and PIK3CA somatic mutations exist in VM–EC
Patient ID | TIE2/ PIK3CA mutation detected | |
---|---|---|
Endothelial cells (CD31+) | Non-endothelial cells (CD31−) | |
1 | TIE2 L914F | No |
A | TIE2 L914F | No |
9 | TIE2 L914F | No |
11 | TIE2 L914F | No |
G | TIE2 L914F | No |