. 2019 May 28;1(1):H33–H40. doi: 10.1530/VB-19-0016
This work is licensed under a Table 1.
Genetic mutations in vascular anomalies.
| Vascular anomalies | Gene mutations | References |
|---|---|---|
| Vascular tumors | KRAS, NRAS, HRAS, BRAF, GNAQ, GNA11, GNA14 | (72, 73, 74, 75) |
| Vascular malformations | ||
| Simple | ||
| Capillary malformation | GNAQ, GNA11, KRAS | (76, 77, 78) |
| Lymphatic malformation | PIK3CA | (18, 19, 20, 21) |
| Venous malformation | TEK, PIK3CA | (29, 31, 32, 33, 34, 35) |
| Arteriovenous malformation | KRAS, MAP2K1, BRAF | (76, 79, 80) |
| Combined | ||
| Lymphatic-Venous malformation | PIK3CA | (81) |
| Capillary-Lymphatic-Venous malformation/KTS, CLOVES | PIK3CA | (18, 46, 47, 48, 49) |
| Capillary malformation-ArterioVenous malformation | RASA1, EPHB4 | (82, 83) |
| Others | ||
| Fibro-adipose vascular anomaly | PIK3CA | (18) |
| Megalencephaly-capillary malformation | PIK3CA | (53) |