Article
High depth targeted next-generation sequencing in vascular malformations.
Human molecular genetics - 8 Feb 2026
Pakhathirathien Pattima, Wongkittichote Parith, Wittayakornrerk Sanchawan, Treesit Tharintorn, Feinggumloon Sasikorn, Pichipichatkul Kaewpitcha, Bua-Ngam Chinnarat, Sarovath Ajchariya, Thanachatchairattana Pornsri, Dumrongwongsiri Sarayuth, Bowling Kevin M, Corliss Meagan M, Cao Yang, Tim-Aroon Thipwimol, Khongkraparn Arthaporn, Noojaroen Saisuda, Wattanasirichaigoon Duangrurdee
Abstract excerpt
A vascular anomaly could be a vascular tumor or a vascular malformation. Vascular malformation is subclassified into fast-flow, including arteriovenous malformation and portwine stain, and slow-flow group comprising venous malformation, lymphatic malformation, and venolymphatic malformation. Recent data have shown that somatic mutations of genes in PIK3/AKT/mTOR and RAS/MAPK/ERK pathways are a major cause of this...
Topics
- Humans
- High-Throughput Nucleotide Sequencing
- Vascular Malformations
- Female
- Male
- Mutation
- Adult
- Class I Phosphatidylinositol 3-Kinases
- Child