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Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants
Author(s) -
Goss Jeremy A.,
Konczyk Dennis J.,
Smits Patrick,
Sudduth Christopher L.,
Bischoff Joyce,
Liang Marilyn G.,
Greene Arin K.
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13702
Subject(s) - somatic cell , adipose tissue , digital polymerase chain reaction , allele , subcutaneous adipose tissue , biology , exon , subcutaneous fat , pathology , cancer research , gene , endocrinology , medicine , genetics , polymerase chain reaction
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.