scholarly journals Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Peter A. Johansson ◽  
Kelly Brooks ◽  
Felicity Newell ◽  
Jane M. Palmer ◽  
James S. Wilmott ◽  
...  
Cancers ◽  
2021 ◽  
Vol 13 (7) ◽  
pp. 1700
Author(s):  
Melissa Chalada ◽  
Charmaine A. Ramlogan-Steel ◽  
Bijay P. Dhungel ◽  
Christopher J. Layton ◽  
Jason C. Steel

Uveal melanoma (UM) is currently classified by the World Health Organisation as a melanoma caused by risk factors other than cumulative solar damage. However, factors relating to ultraviolet radiation (UVR) susceptibility such as light-coloured skin and eyes, propensity to burn, and proximity to the equator, frequently correlate with higher risk of UM. These risk factors echo those of the far more common cutaneous melanoma (CM), which is widely accepted to be caused by excessive UVR exposure, suggesting a role of UVR in the development and progression of a proportion of UM. Indeed, this could mean that countries, such as Australia, with high UVR exposure and the highest incidences of CM would represent a similarly high incidence of UM if UVR exposure is truly involved. Most cases of UM lack the typical genetic mutations that are related to UVR damage, although recent evidence in a small minority of cases has shown otherwise. This review therefore reassesses statistical, environmental, anatomical, and physiological evidence for and against the role of UVR in the aetiology of UM.


Ophthalmology ◽  
2009 ◽  
Vol 116 (2) ◽  
pp. 340-348 ◽  
Author(s):  
Andrea Schmidt-Pokrzywniak ◽  
Karl-Heinz Jöckel ◽  
Norbert Bornfeld ◽  
Wolfgang Sauerwein ◽  
Andreas Stang

2016 ◽  
Vol 99 (5) ◽  
pp. 1190-1198 ◽  
Author(s):  
Beryl Royer-Bertrand ◽  
Matteo Torsello ◽  
Donata Rimoldi ◽  
Ikram El Zaoui ◽  
Katarina Cisarova ◽  
...  

2017 ◽  
Vol 95 ◽  
Author(s):  
A. Goh ◽  
C. Ramlogan-Steel ◽  
A. Jayachandran ◽  
J. Steel ◽  
C. Layton

1994 ◽  
Vol 1 (1) ◽  
pp. 27-30 ◽  
Author(s):  
Paul J. Dolin ◽  
Alexander J. E. Foss ◽  
John L. Hungerford

Author(s):  
Nathalie Dhomen ◽  
Piyushkumar A. Mundra ◽  
Richard Marais

SummaryIn 1967, Sandy Posey pronounced that sunglasses are essential beachwear (https://www.youtube.com/watch?v=4HVBEb-GA1Y). Now, whole-genome sequencing reveals that ultraviolet radiation (UVR) can contribute to melanomas in the iris and conjunctiva, data that provide a molecular explanation for why it is important to protect our eyes from exposure to UVR.


2018 ◽  
pp. 1-12 ◽  
Author(s):  
Aaron Beasley ◽  
Timothy Isaacs ◽  
Muhammad A. Khattak ◽  
James B. Freeman ◽  
Richard Allcock ◽  
...  

Purpose To evaluate the feasibility of using circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) for the management of uveal melanoma (UM). Patients and Methods Low-coverage whole-genome sequencing was used to determine somatic chromosomal copy number alterations (SCNAs) in primary UM tumors, ctDNA, and whole-genome amplified CTCs. CTCs were immunocaptured using an antimelanoma-associated chondroitin sulfate antibody conjugated to magnetic beads and immunostained for melanoma antigen recognised by T cells 1 (MART1)/glycoprotein 100 (gp100)/S100 calcium-binding protein β (S100β). ctDNA was quantified using droplet digital polymerase chain reaction assay for mutations in the GNAQ, GNA11, PLCβ4, and CYSLTR2 genes. Results SCNA analysis of CTCs and ctDNA isolated from a patient with metastatic UM showed good concordance with the enucleated primary tumor. In a cohort of 30 patients with primary UM, CTCs were detected in 58% of patients (one to 37 CTCs per 8 mL of blood), whereas only 26% of patients had detectable ctDNA (1.6 to 29 copies/mL). The presence of CTCs or ctDNA was not associated with tumor size or other prognostic markers. However, the frequent detection of CTCs in patients with early-stage UM supports a model in which CTCs can be used to derive tumor-specific SCNA relevant for prognosis. Monitoring of ctDNA after treatment of the primary tumor allowed detection of metastatic disease earlier than 18F-labeled fluorodeoxyglucose positron emission tomography in two patients. Conclusion The presence of CTCs in localized UM can be used to ascertain prognostic SCNA, whereas ctDNA can be used to monitor patients for early signs of metastatic disease. This study paves the way for the analysis of CTCs and ctDNA as a liquid biopsy that will assist with treatment decisions in patients with UM.


2020 ◽  
Vol 22 (3) ◽  
pp. 429-434
Author(s):  
Aaron B. Beasley ◽  
Jacqueline Bentel ◽  
Richard J.N. Allcock ◽  
Tersia Vermeulen ◽  
Leslie Calapre ◽  
...  

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