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Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants.
- Source :
-
Clinical genetics [Clin Genet] 2020 May; Vol. 97 (5), pp. 736-740. Date of Electronic Publication: 2020 Jan 27. - Publication Year :
- 2020
-
Abstract
- Diffuse capillary malformation with overgrowth (DCMO) is a clinical diagnosis describing patients with multiple, extensive capillary malformations (CMs) associated with overgrowth and foot anomalies. The purpose of the study was to identify somatic variants in DCMO. Skin containing CM and overgrown subcutaneous adipose tissue was collected from patients with DCMO. Exons from 447 cancer-related genes were sequenced using OncoPanel. Variant-specific droplet digital PCR (ddPCR) independently confirmed the variants and determined variant allele frequencies (VAF). One subject contained a somatic PIK3CA p.G106V variant. A second patient had a PIK3CA p.D350G variant. VAF was 27% to 29% in skin and 16% to 28% in subcutaneous adipose. Variants were enriched in endothelial cells (VAF 50%-51%) compared to nonendothelial cells (1%-8%). DCMO is associated with somatic PIK3CA variants and should be considered on the PIK3CA-related overgrowth spectrum (PROS). Variants are present in both skin and subcutaneous adipose and are enriched in endothelial cells.<br /> (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Subjects :
- Abnormalities, Multiple pathology
Adolescent
Adult
Capillaries metabolism
Capillaries pathology
Female
Genetic Association Studies
Humans
Male
Mutation genetics
Vascular Malformations pathology
Young Adult
Abnormalities, Multiple genetics
Capillaries abnormalities
Class I Phosphatidylinositol 3-Kinases genetics
Genetic Predisposition to Disease
Vascular Malformations genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 97
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 31909475
- Full Text :
- https://doi.org/10.1111/cge.13702