The expression of vascular endothelial growth factor and its receptors in port‐wine stains

Vural, Emre; Ramakrishnan, Jeevan; Cetin, Neslihan; Buckmiller, Lisa M.; Suen, James Y.; Fan, Chun‐Yang

doi:10.1016/j.otohns.2008.07.015

Cited by 54 publications

(35 citation statements)

References 22 publications

(52 reference statements)

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“…We have identified an activation profile of various kinases during different stages of PWS progression, including (1) c-Jun N-terminal kinases and extracellular signal regulated kinases in infantile to nodular PWS, which may contribute to both the pathogenesis and progressive development of PWS; (2) AKT and phosphatidylinositol 3-kinases, which may be involved in the progressive dilation of PWS blood vessels; and (3) phosphoinositide phospholipase C γ subunit, which may lead to the formation of nodules [6]. Furthermore, PWS have elevated expression of both vascular endothelial growth factor (VEGF) and VEGF receptor subtype 2 (VEGFR-2) [7]. …”

Section: Port-wine Stain Etiologymentioning

confidence: 99%

The Role of Laser Speckle Imaging in Port-Wine Stain Research: Recent Advances and Opportunities

Choi

Tan

Jia

et al. 2016

IEEE J. Select. Topics Quantum Electron.

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Here, we review our current knowledge on the etiology and treatment of port-wine stain (PWS) birthmarks. Current treatment options have significant limitations in terms of efficacy. With the combination of 1) a suitable preclinical microvascular model, 2) laser speckle imaging (LSI) to evaluate blood-flow dynamics, and 3) a longitudinal experimental design, rapid preclinical assessment of new phototherapies can be translated from the lab to the clinic. The combination of photodynamic therapy (PDT) and pulsed-dye laser (PDL) irradiation achieves a synergistic effect that reduces the required radiant exposures of the individual phototherapies to achieve persistent vascular shutdown. PDL combined with anti-angiogenic agents is a promising strategy to achieve persistent vascular shutdown by preventing reformation and reperfusion of photocoagulated blood vessels. Integration of LSI into the clinical workflow may lead to surgical image guidance that maximizes acute photocoagulation, is expected to improve PWS therapeutic outcome. Continued integration of noninvasive optical imaging technologies and biochemical analysis collectively are expected to lead to more robust treatment strategies.

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Section: Port-wine Stain Etiologymentioning

confidence: 99%

The Role of Laser Speckle Imaging in Port-Wine Stain Research: Recent Advances and Opportunities

Choi

Tan

Jia

et al. 2016

IEEE J. Select. Topics Quantum Electron.

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“…8 An inactivating mutation of RASA1 on 5q encoding a guanosine triphosphatase-activating protein with negative regulation of Ras activity has been detected in some families with multiple capillary malformations. 9 With regard to the hypothesis suggesting a somatic mutation, a breakthrough was recently made in a study using amplicon sequencing and SNaPshot assays to test affected and unaffected tissue from 50 patients with Sturge-Weber syndrome, nonsyndromic PWSs, and normal tissue as controls for somatic mutations.…”

mentioning

confidence: 99%

Novel Genetic Mutations in a Sporadic Port-Wine Stain

et al. 2014

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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 inGNAQ 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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“…8,9 Shirley and colleagues 10 identified a specific somatic mosaic activating mutation in the GNAQ gene in samples of affected tissue from 88% of participants (23 of 26) with Sturge-Weber syndrome and 92% of participants (12 of 13) with nonsyndromic port wine marks. The data indicates that there is an underlying mechanism for the SturgeWeber syndrome and nonsyndromic port wine marks and adds a molecular basis for a decades-old hypothesis regarding somatic mutations as the cause of the malformations.…”

Section: Discussionmentioning

confidence: 99%

Retinal vein-to-vein anastomoses in Sturge-Weber syndrome documented by ultra-widefield fluorescein angiography

Quan¹,

Moore²,

Tsui³

2015

Journal of American Association for Pediatric Ophthalmology and

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The expression of vascular endothelial growth factor and its receptors in port‐wine stains

Abstract: VEGF and its receptor may play an important role in the pathogenesis of PWS. It is possible that PWS may progress by hyperplasia in addition to hypertrophy. VEGF-R blockade may have a potential role as a targeted approach in the treatment of this disfiguring condition in the future.

Cited by 54 publications

References 22 publications

The Role of Laser Speckle Imaging in Port-Wine Stain Research: Recent Advances and Opportunities

The Role of Laser Speckle Imaging in Port-Wine Stain Research: Recent Advances and Opportunities

Novel Genetic Mutations in a Sporadic Port-Wine Stain

Retinal vein-to-vein anastomoses in Sturge-Weber syndrome documented by ultra-widefield fluorescein angiography

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