Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants
| العنوان: | Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants |
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| المؤلفون: | Joyce Bischoff, Dennis J. Konczyk, Patrick Smits, Jeremy A. Goss, Christopher L. Sudduth, Arin K. Greene, Marilyn G. Liang |
| المصدر: | Clin Genet |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Adolescent, Capillary malformation, Class I Phosphatidylinositol 3-Kinases, Vascular Malformations, Somatic cell, Adipose tissue, 030105 genetics & heredity, Biology, medicine.disease_cause, Article, Young Adult, 03 medical and health sciences, Exon, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Digital polymerase chain reaction, Gene, Genetic Association Studies, Genetics (clinical), Mutation, Capillaries, 030104 developmental biology, Female, Subcutaneous adipose tissue |
| الوصف: | 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. |
| تدمد: | 1399-0004 0009-9163 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3688229d1144f9a6df15894ea20af3a0 https://doi.org/10.1111/cge.13702 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....3688229d1144f9a6df15894ea20af3a0 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13990004 00099163 |
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