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Review

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

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
*
Authors to whom correspondence should be addressed.
J. Dev. Biol. 2022, 10(1), 11; https://doi.org/10.3390/jdb10010011
Submission received: 16 December 2021 / Revised: 28 January 2022 / Accepted: 1 February 2022 / Published: 8 February 2022
(This article belongs to the Special Issue Advances in Development: Focus on Rare Congenital Diseases)

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: lymphatic malformation; cystic hygroma; PI3CKA lymphatic malformation; cystic hygroma; PI3CKA

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MDPI and ACS Style

Lee, S.Y.; Loll, E.G.; Hassan, A.-E.S.; Cheng, M.; Wang, A.; Farmer, D.L. Genetic and Molecular Determinants of Lymphatic Malformations: Potential Targets for Therapy. J. Dev. Biol. 2022, 10, 11. https://doi.org/10.3390/jdb10010011

AMA Style

Lee SY, Loll EG, Hassan A-ES, Cheng M, Wang A, Farmer DL. Genetic and Molecular Determinants of Lymphatic Malformations: Potential Targets for Therapy. Journal of Developmental Biology. 2022; 10(1):11. https://doi.org/10.3390/jdb10010011

Chicago/Turabian Style

Lee, Su Yeon, Emma Grace Loll, Abd-Elrahman Said Hassan, Mingyu Cheng, Aijun Wang, and Diana Lee Farmer. 2022. "Genetic and Molecular Determinants of Lymphatic Malformations: Potential Targets for Therapy" Journal of Developmental Biology 10, no. 1: 11. https://doi.org/10.3390/jdb10010011

APA Style

Lee, S. Y., Loll, E. G., Hassan, A.-E. S., Cheng, M., Wang, A., & Farmer, D. L. (2022). Genetic and Molecular Determinants of Lymphatic Malformations: Potential Targets for Therapy. Journal of Developmental Biology, 10(1), 11. https://doi.org/10.3390/jdb10010011

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