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Review
. 2022 Feb 8;10(1):11.
doi: 10.3390/jdb10010011.

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

Su Yeon Lee  1   2 , Emma Grace Loll  2 , Abd-Elrahman Said Hassan  1   2 , Mingyu Cheng  3 , Aijun Wang  2 , Diana Lee Farmer  1   2
Affiliations
Review

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

Su Yeon Lee et al. J Dev Biol. .

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.

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Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.

Figures

Figure 1
Figure 1
Hematoxylin and eosin stained of lymphatic malformation. (A) 40× image shows variably sized anastomosing vascular space lined by endothelial cells with stromal fibrosis of the malformation walls. (B) 100× image shows small with bland appearing endothelial cells with oval to flattened nuclei. Lymphocytes are present within both dilated lumina and septa.
Figure 2
Figure 2
Major hypothesis regarding pathogenesis of lymphatic malformations. (A) McClure’s centripetal theory of mesenchymal origin of lymphangiogenesis where primordial sacs fail to fuse with venous system. (B) Tissue abnormally sequestered early in embryogenesis and fail to join central lymphatic channels. (C) Abnormal budding of lymphatic structures. Created with Biorender.com.
See this image and copyright information in PMC

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