Title

Novel Genetic Mutations in a Sporadic Port-Wine Stain

Publication Date

2014

Journal Title

JAMA Dermatology

Abstract

Importance: Port-wine stains (PWSs) are common congenital cutaneous capillary malformations. A somatic GNAQ mutation was recently identified in patients with sporadic PWSs and Sturge-Weber syndrome. However, subsequent studies to confirm or extend this observation are lacking. Observations: We report a long-standing, unilateral facial PWS of a man in his early 70s confirmed by histopathological analysis. Staged surgical excision of the vascular malformation was performed, and genomic DNA was extracted from the vascular malformation specimen and normal skin. Targeted next-generation sequencing of the coding sequence of 275 known cancer genes including GNAQ was performed in both specimens. A single-nucleotide variant (c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample. In addition, this sequencing approach uncovered several additional novel somatic mutations in the genes SMARCA4, EPHA3, MYB, PDGFR-beta, and PIK3CA. Conclusions and Relevance: Our findings confirm the presence of somatic mutations in GNAQ in the affected skin of a patient with congenital PWS, as well as alterations in several other novel genes of possible importance in the pathogenesis of PWS that may also offer substantial therapeutic targets.

Volume Number

150

Issue Number

12

Pages

1336-1340

Document Type

Article

EPub Date

2014/09/05

Status

Northwell Researcher

Facility

Northwell Health

Primary Department

Otolaryngology

PMID

25188413

DOI

10.1001/jamadermatol.2014.1244