Vascular Malformations and Hemangiomas

Radiological Evaluation of the Natural History of PIK3CA-Related Overgrowth Spectrum (PROS)

This study describes the natural history of PROS using MRI scans, showing most lesions enlarge over time with progression continuing into adulthood.

Constitutive, mosaic expression of TIE2 p.L914F during mouse development causes formation of venous malformation

This study shows that mosaic expression of the TIE2 p.L914F mutation during mouse development causes partial embryonic lethality and venous malformation.

MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations

This study identifies GNAQ R183Q mutation-induced endothelial barrier dysfunction in capillary malformations and shows that targeting MAPK signaling and ANGPT2 can restore barrier integrity.

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

This study shows that the TIE2 p.L914F mutation causes embryonic lethality and vascular defects in mice, highlighting its incompatibility with early vascular development.

A high-throughput zebrafish screen identifies novel candidate treatments for Kaposiform Lymphangiomatosis (KLA)

This study identifies potential treatments for Kaposiform Lymphangiomatosis using a zebrafish model and high-throughput drug screening.

An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q

This paper develops a mouse model expressing GNAQ p.R183Q in endothelial cells to study capillary malformation, showing it causes vascular malformations similar to human CM.

An endothelial SOX18-mevalonate pathway axis enables repurposing of statins for infantile hemangioma

The paper identifies a SOX18-mevalonate pathway axis in infantile hemangioma and suggests repurposing statins as a treatment.

Dysfunctional mechanotransduction regulates the progression of PIK3CA-driven vascular malformations

This study identifies defective endothelial mechanotransduction and hemodynamic shear stress as key drivers of PIK3CA-driven vascular malformations.

Similarities and differences between brain and skin GNAQ p.R183Q driven capillary malformations

The paper compares morphological features of GNAQ p.R183Q-driven capillary malformations in brain and skin tissues to understand their pathogenesis and guide targeted therapies.

Genomic Landscape of Lymphatic Malformations: A Case Series and Response to the PI3Kα Inhibitor Alpelisib in an N-of-One Clinical Trial

This paper reports the genomic profile of lymphatic malformations, identifies PIK3CA and NRAS mutations, and shows a response to the PI3K inhibitor alpelisib in a personalized trial.

Somatic activating BRAF variants cause isolated lymphatic malformations

The paper identifies somatic BRAF variants as a cause of PIK3CA-negative lymphatic malformations, expanding the genetic understanding of vascular malformations.

CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

The paper identifies somatic activating PIK3CA mutations in CLAPO syndrome patients and updates the syndrome's phenotype and natural history.