Genetic and Molecular Determinants of Lymphatic Malformations: Potential Targets for Therapy

J Dev Biol. 2022 Feb 8;10(1):11. doi: 10.3390/jdb10010011.


Lymphatic malformations are fluid-filled congenital defects of lymphatic channels occurring in 1 in 6000 to 16,000 patients. There are various types, and they often exist in conjunction with other congenital anomalies and vascular malformations. Great strides have been made in understanding these malformations in recent years. This review summarize known molecular and embryological precursors for lymphangiogenesis. Gene mutations and dysregulations implicated in pathogenesis of lymphatic malformations are discussed. Finally, we touch on current and developing therapies with special attention on targeted biotherapeutics.

Keywords: PI3CKA; cystic hygroma; lymphatic malformation.

Publication types

  • Review