TABLE 1:
PIK3CA mutations identified in Vascular Malformation/Somatic Overgrowth Cohort
| Patient # | Diagnosis | Gender | Age | Genomic position (hg19) | cDNA (NM_006218.2) | Amino acid change | Previously reported? | Tissue | AAF | Average Coverage |
|---|---|---|---|---|---|---|---|---|---|---|
| VAN_1 | CapM, asymmetric OVG (lower limbs, abdomen) | M | 44 days | chr3:178928079 | c.1357G>A | E453K | PMID 24374682, 25557259 | FB | 0.21 | 1228 |
| Blood | 0 | 1433 | ||||||||
| VAN_2 | CLOVES | F | 3 yrs | chr3:178936095 | c.1637A>G | Q546R | novel | FB | 0.03 | 354 |
| Blood | 0 | 422 | ||||||||
| VAN_3 | facial OVG (soft tissue, bone, skin, parotid) and sebaceous nevus | F | 45 yrs | 3:178936082 | c.1624G>A | E542K | hotspot | Affected tissue | 0.27 | 836 |
| Blood | 0 | 891 | ||||||||
| VAN_4 | L hemihypertophy, facial OVG with neck mass, asymmetric macroglossia, exostoses | M | 23 months | 3:178952085 | c.3140A>G | H1047R | hotspot | FFPE (tonsil) | 0.02 | 253 |
| blood | 0 | 795 | ||||||||
| VAN_5 | VLM of anterior mediastinum and BL upper arms | M | 1 yr | 3:178936082 | c.1624G>A | E542K | hotspot | FFPE (VLM lesion) | 0.019 | 1070 |
| VAN_6 | OVG (scapular) | M | 4 yrs | chr3:178916945-178916956 | c.332_343del | K111_N114del | novel | FFPE (scapular mass) | 0.5 | 608 |
| FFPE (scapular mass) | 0.5 | 937 | ||||||||
| VAN_7 | L Hemihypertrophy, unspecified vascular malformation | F | 10 yrs | chr3:178952076 | c.3131A>G | N1044S | novel | Affected tissue | 0.4 | 406 |
| Unaffected tissue | 0.07 | 522 | ||||||||
| VAN_8 | Macrodactyly, cystic lung lesion, lipoma gastric fundus and segmental OVG | M | 53 yrs | 3:178936082 | c.1624G>A | E542K | hotspot | Affected tissue | 0.17 | 461 |
| E542K | Blood | 0 | 241 | |||||||
| VAN_9 | CILF | F | 8 yrs | chr3:178928079 | c.1357G>A | E453K | PMID 24374682, 25557259 | Affected tissue | 0.09 | 641 |
| VAN_10 | venous malformation R hand, infantile hemangioma, epilepsy with cortical dysplasia | M | 4 yrs | – | – | – | – | ND | NA | 306 |
| VAN_11 | Congenital intestinal lymphangiectasia | F | 2 yrs | – | – | – | – | Retroperitoneal soft tissue | NA | 697 |
| VAN_12 | Lymphatic malformation R pelvis and thigh. Possible Kaposiform lymphangiomatosis |
F | 11 yrs | – | – | – | – | Blood | NA | 432 |
| VAN_13 | Vascular malformation, predominantly capillary, L thigh | M | 16 yrs | – | – | – | – | FB | NA | 272 |
| VAN_14 | MLT | M | 17 yrs | – | – | – | – | Blood | NA | 1118 |
| VAN_15 | VLM chest and abdomen | M | 5 yrs | – | – | – | – | Blood | NA | 1268 |
| VAN_16 | VLM head and neck | F | ND | – | – | – | – | FB | NA | 530 |
| VAN_17 | CLOVES | F | 12 | – | – | – | – | FB | NA | 677 |
| VAN_18 | Macrocystic LM | F | 8 yrs | – | – | – | – | FFPE (LM lesion) | NA | 271 |
| VAN_19 | CapM, very mild leg hemihypertrophy (R>L), ASD and VSD | M | 21 days | – | – | – | – | Blood | NA | 432 |
| – | – | – | – | FFPE (capM) | NA | 254 | ||||
| VAN_20 | CLOVES | F | 23 months | – | – | – | – | Skin (unaffected side of body) | NA | 738 |
| – | – | – | – | FB (unaffected side of body) | NA | 853 | ||||
| – | – | – | – | Blood | NA | 418 | ||||
| VAN_21 | VLM L arm | F | 15 yrs | – | – | – | – | Blood | NA | 1291 |
| VAN_22 | unspecified OVG | F | 14 months | – | – | – | – | Blood | NA | 944 |
Abbreviations: AAF (alternate allele frequency), ASD (atrioseptal defect), CapM (Capillary Malformation), CILF (congenital inflitrating lipomatosis of the face), CLOVES (congenital lipomatous overgrowth with vascular abnormaltieis, epidermal nevi and skeletal/spinal abnormalities), FB (fibroblast), MLT (multifocal lymphangioendotheliomatosis with thrombocytopenia), OVG (overgrowth), VLM (mixed venolymphatic malformation), VSD (ventriculosepatal defect).