Table 1.
Somatic variants in plasma cfDNA from extracranial AVM and VeM.
| Plasma cfDNA | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Patient | Sex | Agea | VM Type | Location | Variant | Tissue VAF (%)b | Plasma volume (mL)c | VAF (%)b | Droplets (Var/WT) |
| LR16-173 | F | 15 | AVM | Ear |
MAP2K1 p.K57N (c.171G>T) |
8.2 | 3.3 0.9 0.5 |
0.4 NEG NEG |
21/4823 1/2151 0/1107 |
| LR17-049 | F | 18 | AVM | Face, temple |
MAP2K1 p.Q56P (c.167A>C) |
5.9 | 0.9 0.5 |
1.6 2.1 |
9/531 47/2096 |
| LR13-356 | M | 19 | AVM | Face, buccal |
MAP2K1 p.K57N (c.171G>T) |
7.2 | 0.9 | NEG | 2/1793 |
| LR17-050 | M | 1.4 | AVM | Anterior scalp |
BRAF p.V600E (c.1799T>A) |
21.2 | 0.4 | NEG | 1/810 |
| LR17-205 | M | 13 | AVM | Face, forehead |
MAP2K1 p.K57N (c.171G>T) |
5.2 | 0.6 1.3 |
NEG NEG | 0/38305 0/1437 |
| LR17-207 | M | 18 | AVM | Face, supraorbital |
MAP2K1 p.K57N (c.171G>T) |
1.0 | 3.0 | NEG | 0/2131 |
| LR17-208 | F | 11 | AVM | Hand |
MAP2K1 p.K57N (c.171G>C) |
13.7 | 1.3 0.6 0.9 |
NEG NEG NEG | 0/974 0/764 0/1337 |
| LR18-541 | M | 8 | AVM | Ear |
MAP2K1 p.K57N (c.171G>T) |
6.1 | 0.3 0.5 |
NEG NEG | 0/83 1/304 |
| LR18-542 | M | 4 | VeM | Face, buccal |
TEK p.L914F (c.2740C>T) |
3.3 | 0.8 | 1.6 | 21/1329 |
| LR16-024 | M | 8 | VeM | Tongue |
TEK p.L914F (c.2740C>T) |
7.5 | 4.0 | NEG | 1/1673 |
| LR17-197 | M | 3 | VeM | Face, buccal |
TEK p.L914F (c.2740C>T) |
8.0 | 2.3 0.7 |
NEG NEG |
0/1900 0/44 |
Abbreviations: AVM – arteriovenous malformation, NEG – no variant detected, VAF – variant allele fraction, Var – variant, VM – vascular malformation, VeM – venous malformation, WT – wild-type.
a
Age at earliest plasma collection in years.
b
VAF calculated using droplet concentrations and only reported for samples in which sample variant concentration was statistically different from WT cfDNA control variant concentration based on 95% total error confidence intervals.
c
Samples taken at separate time points when multiple volumes listed excepting LR18–541 who had two plasma samples from the same day.