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Case Report/Case Series |

Novel Genetic Mutations in a Sporadic Port-Wine Stain

Christine Guo Lian, MD1; Lynette M. Sholl, MD1,2; Labib R. Zakka, MA, MD3; Teresa M. O, MD4; Cynthia Liu1; Shuyun Xu, MD, PhD1; Ewelina Stanek1; Elizabeth Garcia, PhD1; Yonghui Jia, PhD2; Laura E. MacConaill, PhD2; George F. Murphy, MD1; Milton Waner, MD4; Martin C. Mihm Jr, MD3
[+] Author Affiliations
1Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts
2Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts
3Department of Dermatology, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts
4Vascular Birthmark Institute of New York, Department of Otolaryngology–Head and Neck Surgery, Lenox Hill Hospital, North Shore-LIJ School of Medicine, New York
JAMA Dermatol. 2014;150(12):1336-1340. doi:10.1001/jamadermatol.2014.1244.
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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-β, 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.

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Figure 1.
Clinical Photograph of the Port-Wine Stain Lesion

Dark red to violaceous macules, patches, plaques, and nodules are prominent on the right side of the patient's face. Note the marked lower lip hypertrophy, as well as the deformed ear and partially blocked ear canal.

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Figure 2.
Histopathological Analysis of Port-Wine Stain (PWS) Lesional Tissue

A, Extensive ectasia and dilatation of the papillary dermal capillaries in the superficial to mid-dermis were noted in the PWS lesional tissue. Arrowheads indicate ectatic vessels (hematoxylin-eosin, original magnification ×100). B, Various sizes and shapes of vessels, many filled with blood (yellow arrowhead), especially in the lower dermis, exhibit thickened hyalinized walls (black arrowhead) and entrapment of pericyte-like cells in the thickened walls (blue arrowheads) (hematoxylin-eosin, original magnification ×400).

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Figure 3.
A Single-Nucleotide Mutation Identified by Whole-Exon GNAQ Mutation Detection

A single c.548G>A nucleotide mutation was identified in a tissue sample of a port-wine stain lesion, whereas no such mutation was found in paired normal tissue by whole-exon GNAQ mutation detection.

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