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

Research output: Contribution to journalReview articlepeer-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 languageEnglish (US)
Article number11
JournalJournal of Developmental Biology
Volume10
Issue number1
DOIs
StatePublished - Mar 2022

Keywords

  • Cystic hygroma
  • Lymphatic malformation
  • PI3CKA

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Biology
  • Cell Biology

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