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Somatic activating BRAF variants cause isolated lymphatic malformations.

Kaitlyn Zenner1,2, Dana M Jensen3, Victoria Dmyterko3

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HGG Advances
|April 4, 2022
PubMed
Summary
This summary is machine-generated.

Somatic activating BRAF variants are found in lymphatic malformations (LMs) lacking PIK3CA variants. This discovery expands understanding of vascular malformation genetics and emphasizes the need for genetic diagnosis before treatment.

Keywords:
BRAFPIK3CAVANSeqclinical diagnosticsddPCRendotheliumlymphatic malformationmosaicismpost-zygoticvascular

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Area of Science:

  • Genetics
  • Molecular Biology
  • Pathology

Background:

  • Somatic activating variants in PIK3CA are found in approximately 80% of lymphatic malformations (LMs).
  • Previous models linked low-flow vascular malformations to PI3K-AKT-MTOR pathway mutations and high-flow malformations to RAS-MAPK pathway mutations.

Purpose of the Study:

  • To investigate the presence of somatic activating variants in BRAF in individuals with LMs that do not have PIK3CA variants.
  • To understand the role of BRAF variants in the pathogenesis of LMs.

Main Methods:

  • Genetic analysis to detect somatic activating variants in PIK3CA and BRAF.
  • Histological examination of LM tissues.
  • Immunohistochemistry to detect BRAF V600E expression in endothelial cells.

Main Results:

  • Somatic activating BRAF variants, including the common p.Val600Glu mutation, were identified in individuals with LMs lacking PIK3CA variants.
  • Histology showed abnormal lymphatic channels with BRAF V600E immunopositivity in endothelial cells, similar to PIK3CA-positive LMs.
  • BRAF variants contribute to low-flow LMs, challenging previous pathway association models.

Conclusions:

  • BRAF variants are a significant genetic cause of lymphatic malformations.
  • The findings necessitate a broader genetic diagnostic approach for vascular malformations.
  • Accurate genetic diagnosis is crucial for guiding therapeutic strategies in patients with vascular malformations.