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Related Experiment Video

Updated: Dec 31, 2025

A Patient-Derived Xenograft Model for Venous Malformation

A Patient-Derived Xenograft Model for Venous Malformation

Published on: June 15, 2020

Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants.

Jeremy A Goss¹, Dennis J Konczyk¹, Patrick Smits¹

¹Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

Clinical Genetics

|January 8, 2020

Summary

Diffuse capillary malformation with overgrowth (DCMO) is linked to somatic PIK3CA variants. These genetic changes are found in skin and fat, and are most concentrated in endothelial cells, expanding the PIK3CA-related overgrowth spectrum (PROS).

Keywords:

PIK3CA-related overgrowth spectrum capillary malformation genetic association studies humans mutation phosphatidylinositol 3-kinases vascular malformations

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Last Updated: Dec 31, 2025

A Patient-Derived Xenograft Model for Venous Malformation

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Published on: June 15, 2020

A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma DIPG

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Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Area of Science:

Genetics
Dermatology
Molecular Biology

Background:

Diffuse capillary malformation with overgrowth (DCMO) is a clinical diagnosis characterized by extensive capillary malformations, overgrowth, and foot anomalies.
The genetic underpinnings of DCMO have not been fully elucidated.

Purpose of the Study:

To identify somatic variants associated with Diffuse Capillary Malformation with Overgrowth (DCMO).

Main Methods:

Skin and subcutaneous adipose tissue from DCMO patients were analyzed using OncoPanel for gene sequencing.
Droplet digital PCR (ddPCR) was employed to confirm variants and determine variant allele frequencies (VAF).

Main Results:

Somatic PIK3CA variants (p.G106V and p.D350G) were identified in two DCMO patients.
Variants were detected in both skin (VAF 27-29%) and subcutaneous adipose tissue (VAF 16-28%).
Genetic variants showed enrichment in endothelial cells (VAF 50-51%) compared to non-endothelial cells (1-8%).

Conclusions:

Diffuse Capillary Malformation with Overgrowth (DCMO) is associated with somatic PIK3CA variants.
DCMO should be considered part of the PIK3CA-related overgrowth spectrum (PROS).
The identified variants are present in multiple tissue types and enriched in endothelial cells.