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Get ready for an exciting announcement for the melanoma community

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The genetic evolution of uveal melanoma

Alan Shain, PhD

Mentor Boris Bastian, MD, Dr. Med
Award Type Career Development Award
Institution The Regents of the University of California, San Francisco
Donor Support With support from Ted and Joan Newton and the Live4Life Foundation in honor of Liz Reilly. With support from Timothy Aycock Melanoma Research Foundation.
Description:

Uveal melanoma is a type of melanoma that occurs in the eye as opposed to the most common presentations of melanoma, which occur on the skin. A diagnosis of uveal melanoma carries a poor prognosis, especially when these cancers are caught late. At this point, there are no effective treatment options to offer patients with late-stage uveal melanoma. A better understanding of how uveal melanoma is formed in the eye and how it spreads through the body could provide markers for early detection of these tumors and identify crucial steps of their development, which could be subject to future treatment. Several groups have sequenced primary uveal melanomas (i.e. tumors that are situated to the eye). However, few studies have focused on metastatic uveal melanomas (i.e. tumors that have spread to other anatomic sites) or precursors to uveal melanoma (i.e. benign tumors in the eye that pose little risk to the patient). We propose here to study the entire clinical spectrum of uveal melanoma from their earliest precursors all the way to their metastatic state. This has not been done, in part, because it is very challenging to acquire tissues from lesions in the earlier and later phases of uveal melanoma progression. To overcome this challenge, we have established a collaboration with physician-scientists affiliated with one of the world’s largest ocular tumor banks who can provide these informative tissues. It is also technically challenging to sequence and analyze these types of samples. We have previously established a tissue processing, sequencing, and bioinformatic pipeline to analyze the progression of melanomas found on the skin, and we will repurpose this pipeline to analyze the progression of uveal melanomas for this grant. Overall, we are well-positioned to overcome the main challenges to execute this important work. In conclusion, completion of these studies will shed light on the progression of uveal melanoma, a poorly understood process, to guide future therapeutic studies and to also reveal biomarkers for disease progression.