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

Su Yeon Lee; Emma Grace Loll; Abd-Elrahman Said Hassan; Mingyu Cheng; Aijun Wang; Diana Lee Farmer

doi:10.3390/jdb10010011

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

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

Authors

Su Yeon Lee^{1

2}, Emma Grace Loll², Abd-Elrahman Said Hassan^{1

2}, Mingyu Cheng³, Aijun Wang², Diana Lee Farmer^{1

2}

Affiliations

¹ Division of Pediatric, Thoracic and Fetal Surgery, University of California Davis Medical Center, Sacramento, CA 95817, USA.
² Center for Surgical Bioengineering, Department of Surgery, University of California Davis, Sacramento, CA 95817, USA.
³ Department of Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, CA 95817, USA.

Abstract

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

Abstract

Publication types

Grants and funding