Uveal melanoma, also known as ocular melanoma, is rare cancer that affects the uvea, the central layer of the eye. The uvea consists of the iris (the colored part of the eye), the ciliary body (which produces fluid for the eye), and the choroid (a layer of blood vessels under the retina). This disorder most commonly affects the choroid. Uvea also supplies oxygen and nutrients to the retina besides containing the pigment cells called melanocytes and blood vessels. Only around 5% of all melanoma cases in the US occur from the melanocytes in the uvea.
Clinical Description, classification and symptoms
| Classification Level | Disorder |
| Prevalence | 1-9 / 100 000 |
| Age of Onset | Adult |
| Inheritance | NA |
- Redness or pain in the eye
- Visual loss or blurriness
- Dark patches on the iris, the colored portion of the eye; a shift in the pupil’s size or form
- An eye bulge
- Light bursts or dots that float in the field of view
- Although it is rare, it can be aggressive and spread to other organs, including the liver (the most frequent organ to which uveal melanoma spreads), lungs, brain, kidney, and bones if left untreated.
Indeed, up to 50% of uveal melanoma patients will experience potentially fatal metastatic illness. The size and location of the tumor, the degree of its dissemination, and the patient’s general health are some of the variables that affect the prognosis for uveal melanoma. The prognosis is often better for smaller tumors that have not spread outside of the eye than for larger tumors or those that have. Certain inherited genetic variants, such as those in the BAP1 gene, have been connected to a higher risk of uveal melanoma, which can be identified earlier.
Diagnosis and Treatment
Although the precise etiology of uveal melanoma is unknown, changes in the pigment cells of the eye are thought to be a contributing factor. A uveal tumor may arise because of these alterations, which can cause the cells to expand and divide uncontrollably. In contrast to other melanoma subtypes, uveal melanoma has different mutations.
Several variables, such as the tumor’s size and location and the patient’s general health, affect how uveal melanoma is treated. Options for treatment could include:
Radiation therapy: It can be administered internally (brachytherapy) or externally (external beam radiation therapy).
Surgery: For small tumors that have not spread outside of the eye, surgery may be an option. Removing the tumor together with a limited quantity of surrounding tissue is the aim of surgery.
Laser therapy: Laser therapy eliminates cancer cells by using a high-energy laser beam. Small tumors at the front of the eye may be treated with this medication.
Combination therapies: Immune checkpoint inhibitors like nivolumab and ipilimumab are being tested in clinical studies to see how well they work together. This could lead to better outcomes for high-risk patients.
Image: Prevalence of Uveal melanoma, Key Players involved in Treatment, Global Market Analysis for Uveal Melanoma
Targeted therapies: Darovasertib (IDE196) is being tested in human studies as a possible first-line treatment for uveal melanoma that has spread, and it is often used with other drugs such as crizotinib.
On January 25, 2022, the FDA approved tebentafusp-tebn (Kimmtrak, Immunocore Limited), a bispecific gp100 peptide-HLA-directed CD3 T cell engager, for HLA-A*02:01-positive adult patients with unresectable or metastatic uveal IMCgp100-202 (NCT03070392) was a randomized, open-label, multicenter trial of 378 metastatic uveal melanoma patients. By central assay, patients were required to be HLA-A*02:01 positive. Tentafusp-tebn (N=252) or investigator’s choice (N=126) of pembrolizumab, ipilimumab, or dacarbazine was randomized (2:1). Tebentafusp-tebn had a median overall survival (OS) of 21.7 months, while the investigator’s choice arm had a median of 16 months. Progression-free survival (PFS) was 3.3 months for tebentafusp-tebn and 2.9 months for the investigator’s choice arm.
iOnctura, a clinical-stage biopharmaceutical company focused on treating neglected and hard-to-treat cancers, provided a clinical update on its lead asset, roginolisib-a selective PI3Kδ modulator. The Phase I DIONE-01 study results were presented at the ESMO-IO congress in December 2024. In uveal melanoma (UM), patients treated with roginolisib had a median overall survival of 16 months, significantly higher than the 7 months seen in historical controls. Median progression-free survival (PFS) was 5 months, compared to less than 3 months for historical controls pushing the progression of roginolisib towards a randomized Phase II study.
Treatment decisions depend on individual factors such as the tumor’s size, location, and whether it has spread. Close coordination with a specialized oncologist and a multidisciplinary team of doctors is important to ensure the best approach for each patient. The uveal melanoma market was valued at USD 1,000 million in 2024, projected to grow to USD 1,600 million by 2035, reflecting a compound annual growth rate (CAGR) of 4.28% from 2025 to 2035.
For more on rare diseases, stay tuned for next instalment of Care for Rare. Meanwhile, click here for more available resources and support groups for Uveal Melanoma.
Dr. Malini Gupta, Ph.D,
Sources
- https://www.orpha.net/en/disease/detail/39044
- https://www.biospace.com/press-releases/uveal-melanoma-market-size-to-reach-usd-1-600-million-by-2035-impelled-by-technological-advancements-in-personalized-medicine
- https://acureinsight.org/
- https://rarediseases.org/mondo-disease/uveal-melanoma/
- https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-tebentafusp-tebn-unresectable-or-metastatic-uveal-melanoma
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