Table 2 |.
Expanded genetic landscape in vascular anomalies
| Participant ID | Genotype and VAF | Solved approach | Sample type | Distinguishing clinical features | Current diagnosisa |
|---|---|---|---|---|---|
| CLA062 | KRAS c.35G>A, p.G12D, 1.4% | Amplicon panel | gDNA fluid | Conduction abnormalities on MRL | CCLA |
| CLA063 | KRAS c.G35T, p.G12V, 0.77% | UMI panel | gDNA fluid | Conduction abnormalities on MRL | CCLA |
| CLA149 | KRAS c.35G>A, p.G12D, 44% | Amplicon panel | gDNA fluid | Conduction abnormalities on MRL | CCLA |
| CLA163 | KRAS c.436G>A, p.A146T, 3.9% | Deep exome | gDNA tissue | Conduction abnormalities on MRL | CCLA |
| CLA088 | PIK3CA c.A3140T, p.H1047L, 0.15% | UMI panel | gDNA fluid | Conduction abnormalities on MRL | CCLA |
| CLA092 | PIK3CA c.3140A>T. p.H1047L, 1.25% | UMI panel | gDNA fluid | Conduction abnormalities on MRL | CCLA |
| CVA65 | PIK3CA c.3129G>A, p.M1043I, 5.6% | Deep exome | gDNA tissue | Cystic abdomino-pelvic lymphatic malformation with conduction abnormalities on MRL | Features of GLA and CCLA |
| CLA059 | PIK3CA c.3140A>G, p.H1047R, 0.88%; and c.3140A>T, p.H1047L, 0.68% | Amplicon panel | gDNA fluid | Conduction abnormalities on MRL | CCLA |
| CLA060 | BRAF c.T1799A, p.V600E, 0.91% | UMI panel | gDNA tissue | History of excised abdominal lymphatic malformation; conduction abnormalities on MRL | CCLA |
| CLA135 | MAP2K1 c.158T>G, p.F53C, 0.8% | UMI panel | gDNA fluid | CCLA, capillary malformation, overgrowth, pericardial effusion | CCLA |
| CVA231 | KRAS c.167_211dup, p.Q70_Y71ins15, 1.22% | UMI panel | gDNA tissue | Mediastinal lymphatic malformation; bone, liver, splenic lesions | GLA |
| CVA211 | PIK3CA c.263G>A, p.R88Q, 1.3% | UMI panel | gDNA FFPE | Circular bony lesions, spleen, cortex intact | GLA |
| CVA119 | BRAF c.1799T>A, p.V600E, 0.21% | UMI panel | gDNA fluid | Abdominal lymphatic malformation with conduction abnormalities | Features of GLA and CCLA |
| CVA09 | HRAS c.191_217dup, p.M72_R73insHSAMRDQYM, 0.51% | UMI panel | cfDNA fluid | Pelvic lymphatic malformation, conduction abnormalities on MRL | Features of GLA and CCLA |
| CLA164 | NRAS c.182A>G, p.Q61R, 1.48% | UMI panel | cfDNA plasma | Diffuse-appearing lesions on imaging (sternum, vertebrae, femurs, tibias) | KLA |
| CVA14 | NRAS c.182A>G, p.Q61R, 0.54% | UMI panel | cfDNA plasma | Diffuse-appearing lesions on imaging (thoracolumbar vertebrae, rib, femurs, mediastinal edema); elevated D-dimer | KLA |
| CVA177 | NRAS c.182A>G, p.Q61R, 5.1% | UMI panel | gDNA FFPE | Diffuse-appearing lesions on imaging (thoracolumbar vertebrae), mediastinal LM | KLA |
| CVA102 | HRAS c.189_195delinsCATCCCGCCG, p.E63_S65delinsDIPP, 0.54% | UMI panel | gDNA tissue | Diffuse appearing lesions on imaging | KLA |
| CVA221 | PIK3CA c.1633G>A, p.E545K, 11.3% | Deep exome | gDNA tissue | Spindle cells (primary or secondary); diffuse enhancement on imaging typical for KLA | KLA |
| CVA52 | PIK3CA c.3140A>G, p.H1047R, 0.41% | UMI panel | cfDNA plasma | Mediastinal lymphatic malformation; skull, liver, splenic lesions with diffuse appearance | KLA |
| CLA201 | KRAS c.35G>A, p.G12D, 0.55% | UMI panel | cfDNA plasma | KLA | |
| CVA02 | GNAQ c.626A>T, p.Q209L, 6% | Deep exome | gDNA tissue | Subcutaneous lesion noted at 10 years old | Unclassified vascular malformation |
| CVA05 | RASA1 c.1422del, p.(Asn474Lysfs*9), 8%; and c.475_476del, p.(Leu159Glyfs*20) 12.2% | Deep exome | gDNA tissue | Histopathology (Fig. 1o) | Capillary-venous malformation |
| CVA172 | PDGFRB c.1998C>A, p.N666K, 32% | Deep exome | gDNA tissue | CMTC, histopathology (Fig. 1l) | PAVS2 with CMTC |
| CVA03 | LZTR1 c.848G>A, p.R283Q, 4% | Deep exome | gDNA tissue | GLUT1 negative | Congenital hemangioma |
| CVA260 | KDR c.2341_2342insAAGACTTCTGGCTAC, p.L780_L781insQDFWL, 18.1% | Deep exome | gDNA tissue | GLUT1 negative | Congenital hemangioma |