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

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

Surgery

Research output: Contribution to journal › Review article › peer-review

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.

Original language	English (US)
Article number	11
Journal	Journal of Developmental Biology
Volume	10
Issue number	1
DOIs	https://doi.org/10.3390/jdb10010011
State	Published - Mar 2022

Keywords

Cystic hygroma
Lymphatic malformation
PI3CKA

ASJC Scopus subject areas

Molecular Biology
Developmental Biology
Cell Biology

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10.3390/jdb10010011

Cite this

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title = "Genetic and Molecular Determinants of Lymphatic Malformations: Potential Targets for Therapy",

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 = "Cystic hygroma, Lymphatic malformation, PI3CKA",

author = "Lee, {Su Yeon} and Loll, {Emma Grace} and Hassan, {Abd Elrahman Said} and Mingyu Cheng and Aijun Wang and Farmer, {Diana Lee}",

note = "Funding Information: Funding: Author A.‐E.S.H. was supported by the National Center for Advancing Translational Sci‐ ences, National Institutes of Health, through grant number UL1 TR001860. Publisher Copyright: {\textcopyright} 2022 by the authors. Licensee MDPI, Basel, Switzerland.",

year = "2022",

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doi = "10.3390/jdb10010011",

language = "English (US)",

volume = "10",

journal = "Journal of Developmental Biology",

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T1 - Genetic and Molecular Determinants of Lymphatic Malformations

T2 - Potential Targets for Therapy

AU - Lee, Su Yeon

AU - Loll, Emma Grace

AU - Hassan, Abd Elrahman Said

AU - Cheng, Mingyu

AU - Wang, Aijun

AU - Farmer, Diana Lee

N1 - Funding Information: Funding: Author A.‐E.S.H. was supported by the National Center for Advancing Translational Sci‐ ences, National Institutes of Health, through grant number UL1 TR001860. Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.

PY - 2022/3

Y1 - 2022/3

N2 - 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.

AB - 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.

KW - Cystic hygroma

KW - Lymphatic malformation

KW - PI3CKA

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DO - 10.3390/jdb10010011

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

Abstract

Keywords

ASJC Scopus subject areas

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