Somatic mutations in exon 17 of the TEK gene in vascular tumors and vascular malformations

Vascular anomalies, divided into vascular tumors and vascular malformations nowadays, is a common and multidisciplinary involved disease that was originally termed “hemangiomas” or “vascular birthmarks.” Yet, the precise molecular etiology is still poorly understood. In this hypothesis-generating study, we identified novel mutations, R918C and R918H, of the TEK gene in noninherited vascular malformations. Additionally, we provided novel finding of somatic mutations in exon 17 of the TEK gene in other seven subtypes of noninherited vascular anomalies besides reported venous malformation. Our data highlight the broadening spectrum of somatic mutations in exon 17 of the TEK gene and are likely to be of great value in terms of molecular etiology, diagnosis, and therapeutic targets of vascular anomalies in the future.