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Cancers
Special Issues
Clinical Diagnosis, Treatment, and Prognosis of Uveal Melanoma
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Clinical Diagnosis, Treatment, and Prognosis of Uveal Melanoma

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Causes, Screening and Diagnosis".

Deadline for manuscript submissions: 30 June 2025 | Viewed by 7004

Special Issue Editor

Dr. Josep Maria Caminal Mitjana

E-Mail Website
Guest Editor
Department of Ophthalmology, Ocular Oncology and Vitreoretinal Service, Bellvitge University Hospital, L’Hospitalet de Llobregat, 08907 Barcelona, Spain
Interests: uveal-melanoma

Special Issue Information

Dear Colleagues,

Uveal melanoma (UM) is a rare intraocular cancer with an incidence of 4.2 cases per million each year. It is the most common primary intraocular malignancy in adults and the second most common form of melanoma after melanoma of the skin. Patients are usually treated with globe-conserving methods such as radiotherapy or surgical resections, but in the case of large tumors, enucleation is required.

Regardless of primary treatment and effective local tumor control, this cancer is associated with a high mortality rate. Approximately 50% of patients develop metastases, after a median time of 3.1 years following diagnosis of the primary lesion, mostly to the liver through hematogenous spread. Liver metastasis is lethal in the majority of patients, with an estimated survival rate of 6-12 months.

Tebentafusp, recently approved for the systemic treatment of metastatic lesions, has raised hope for these patients.

Minimally invasive methods, such as tumoral biopsies and recently liquid biopsies, would be extremely beneficial, allowing clinical and molecular prognostication, with the aim of early detection of metastases to increase the likelihood of adequate treatment to improve the survival of these patients.

In this Special Issue, experts in this field will review the current approaches to the diagnosis, management and prognosis of patients affected by UM.

Dr. Josep Maria Caminal Mitjana
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • uveal melanoma
  • choroidal melanoma
  • gene expression profiling
  • immunotherapy
  • metastasis
  • radiotherapy
  • liquid biopsy
  • circulating tumor cells
  • brachytherapy
  • next-generation sequencing
  • proton therapy

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Published Papers (5 papers)

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Research

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7 pages, 595 KiB  
Communication
On the Prognostic Implication of Delays in the Definitive Treatment of Uveal Melanoma
by Gustav Stålhammar, Salvatore Grisanti and Paul T. Finger
Cancers 2024, 16(22), 3834; https://doi.org/10.3390/cancers16223834 - 14 Nov 2024
Cited by 1 | Viewed by 1628
Abstract
Background: Recent studies suggest that delays in the definitive treatment of uveal melanoma may increase the risk of metastatic disease. This topic has been the subject of considerable debate. Methods: In this study, we combine and contrast medical evidence from several recent publications [...] Read more.
Background: Recent studies suggest that delays in the definitive treatment of uveal melanoma may increase the risk of metastatic disease. This topic has been the subject of considerable debate. Methods: In this study, we combine and contrast medical evidence from several recent publications seeking to clarify the association between treatment delays and prognosis. Results: Emerging evidence indicates that metastatic seeding may continue until the primary tumor is effectively treated. Metastases that arise later in the disease course may carry additional genetic aberrations, enhancing their capacity to establish fatal macrometastases. Importantly, previous reports of shared mutations between primary tumors and metastases should not be interpreted as evidence that all metastases are seeded early. On the contrary, some tumors acquire additional driver mutations in the later stages, which are subsequently shared between the primary tumors and metastases. The increased risk of metastasis in patients with local tumor recurrence further highlights the importance of timely treatment. Additionally, new data on circulating tumor cells and treatment timing challenge the traditional practice of observing small melanomas. Conclusions: Observation is still warranted for indeterminate lesions to confirm malignancy. However, once a melanoma diagnosis has been established, further observation is harmful, and treatment should be administered as soon as reasonably possible. Full article
(This article belongs to the Special Issue Clinical Diagnosis, Treatment, and Prognosis of Uveal Melanoma)
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10 pages, 651 KiB  
Article
Long Term Follow-Up Observation in Small Choroidal Melanocytic Tumors
by Laura Prieto-Domínguez, Ciro García-Álvarez, Maria F. Muñoz-Moreno, Patricia Diezhandino, David Miguel-Perez and María A. Saornil
Cancers 2024, 16(15), 2627; https://doi.org/10.3390/cancers16152627 - 23 Jul 2024
Cited by 1 | Viewed by 822
Abstract
Background: The purpose of this study is to analyze the long-term evolution of patients with small choroidal melanocytic tumors (SCMTs) undergoing observation, and to assess their rate of transformation into melanomas and survival. Methods: A retrospective single-cohort study of patients with SCMTs (1–3 [...] Read more.
Background: The purpose of this study is to analyze the long-term evolution of patients with small choroidal melanocytic tumors (SCMTs) undergoing observation, and to assess their rate of transformation into melanomas and survival. Methods: A retrospective single-cohort study of patients with SCMTs (1–3 mm in height and 5–10 mm in base) diagnosed from January 1992 to February 2023 was carried out, with observation as the initial treatment. The main criterion for a transformation into melanoma is considered to be an increase in size of more than 1 mm in height and/or more than 1 mm in base measured on an ultrasound/retinography, recorded in two consecutive visits separated by one to three months. Results: 243 patients were included with a mean age of 65.3 years and a mean follow-up of 7.9 years (6 months–27.9 years); 27 patients showed tumor growth. The probabilities of growth at 5, 10, and 15 years are 10%, 14%, and 17%, respectively. Regarding survival, 22 patients died and only 3 deaths were due to melanoma metastasis. Survival rates at 5 and 10 years are 99% and 97%. Conclusions: Observation is a viable therapeutic option for SCMTs, avoiding the side effects of treatment, considering the majority of these tumors do not progress to melanoma. With close monitoring, patients can be treated promptly upon detecting a transformation. Additionally, the findings confirm that small melanocytic tumors can lead to metastatic disease, albeit at a low rate. Full article
(This article belongs to the Special Issue Clinical Diagnosis, Treatment, and Prognosis of Uveal Melanoma)
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12 pages, 5438 KiB  
Article
Intralesional Vessel Diameter Measured by Optical Coherence Tomography Angiography Could Improve the Differential Diagnosis of Small Melanocytic Choroidal Lesions
by Laura Vigués-Jorba, Daniel Lorenzo, Cristina Pujadas, Rahul Morwani, Liria Yamamoto-Rodriguez, Maria Baradad-Jurjo, Lluis Arias, Estefania Cobos, Pere Garcia-Bru, Juan-Francisco Santamaria, Olga Garcia Garcia and Josep-Maria Caminal
Cancers 2024, 16(12), 2167; https://doi.org/10.3390/cancers16122167 - 7 Jun 2024
Viewed by 950
Abstract
In this study, we aimed to identify the features of indeterminate choroidal melanocytic lesions visualized on optical coherence tomography angiography (OCTA) and to identify the predictors of growth. We retrospectively evaluated 86 patients with indeterminate lesions treated at our centre from 2016 to [...] Read more.
In this study, we aimed to identify the features of indeterminate choroidal melanocytic lesions visualized on optical coherence tomography angiography (OCTA) and to identify the predictors of growth. We retrospectively evaluated 86 patients with indeterminate lesions treated at our centre from 2016 to 2021. Clinical management involved active surveillance followed by brachytherapy if growth was detected. The lesions were classified into two groups according to whether they grew (small melanomas) or remained stable (choroidal nevi). Growth was detected in 19 (22.1%) lesions. All patients underwent OCTA at baseline. These images were compared to identify the possible predictors of growth. Significant between-group differences were observed in thickness (p = 0.00), greatest basal diameter (p = 0.00), number of risk factors (p = 0.00), symptoms (p = 0.001; relative risk [RR]: 4.3), orange pigment (p = 0.00; RR: 6.02), and ultrasonographic hollowness (Kappa sign); p = 0.000; RR: 5.3). The melanomas had significantly more vessels with a diameter ≥ 76.3 µm (p = 0.02; RR: 2.46). The time to growth in these lesions was significantly shorter (p = 0.05) than in lesions with smaller vessels. These findings show that vessel diameter quantified by OCTA can help differentiate between choroidal nevi and small melanomas, when considered together with clinical risk factors. Full article
(This article belongs to the Special Issue Clinical Diagnosis, Treatment, and Prognosis of Uveal Melanoma)
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Review

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18 pages, 625 KiB  
Review
Optimizing ctDNA: An Updated Review of a Promising Clinical Tool for the Management of Uveal Melanoma
by Mar Varela, Sergi Villatoro, Daniel Lorenzo, Josep Maria Piulats and Josep Maria Caminal
Cancers 2024, 16(17), 3053; https://doi.org/10.3390/cancers16173053 - 1 Sep 2024
Viewed by 1760
Abstract
Uveal melanoma (UM) is the most common primary malignant intraocular tumor in adults. Distant metastasis is common, affecting around 50% of patients. Prognostic accuracy relies on molecular characterization of tumor tissue. In these patients, however, conventional biopsy can be challenging due to the [...] Read more.
Uveal melanoma (UM) is the most common primary malignant intraocular tumor in adults. Distant metastasis is common, affecting around 50% of patients. Prognostic accuracy relies on molecular characterization of tumor tissue. In these patients, however, conventional biopsy can be challenging due to the difficulty of obtaining sufficient tissue for the analysis due to the small tumor size and/or post-brachytherapy shrinkage. An alternative approach is liquid biopsy, a non-invasive technique that allows for real-time monitoring of tumor dynamics. Liquid biopsy plays an increasingly prominent role in precision medicine, providing valuable information on the molecular profile of the tumor and treatment response. Liquid biopsy can facilitate early detection and can be used to monitor progression and recurrence. ctDNA-based tests are particularly promising due to their ease of integration into clinical practice. In this review, we discuss the application of ctDNA in liquid biopsies for UM. More specifically, we explore the emerging technologies in this field and the advantages and disadvantages of using different bodily fluids for liquid biopsy. Finally, we discuss the current barriers to routine clinical use of this technique. Full article
(This article belongs to the Special Issue Clinical Diagnosis, Treatment, and Prognosis of Uveal Melanoma)
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Other

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12 pages, 2435 KiB  
Systematic Review
Impact of Driver Mutations on Metastasis-Free Survival in Uveal Melanoma: A Meta-Analysis
by David Lamas-Francis, Carmen Antía Rodríguez-Fernández, Elia de Esteban-Maciñeira, Paula Silva-Rodríguez, María Pardo, Manuel Bande-Rodríguez and María José Blanco-Teijeiro
Cancers 2024, 16(14), 2510; https://doi.org/10.3390/cancers16142510 - 10 Jul 2024
Cited by 1 | Viewed by 1339
Abstract
The prognosis of uveal melanoma is significantly influenced by the risk of metastasis, which varies according to clinical and genetic features. Driver mutations can predict the likelihood of disease progression and survival, although the data in the literature are inconsistent. This meta-analysis aimed [...] Read more.
The prognosis of uveal melanoma is significantly influenced by the risk of metastasis, which varies according to clinical and genetic features. Driver mutations can predict the likelihood of disease progression and survival, although the data in the literature are inconsistent. This meta-analysis aimed to evaluate the prognostic significance of driver mutations, including GNAQ, GNA11, BAP1, and SF3B1, in the advancement of uveal melanoma. A comprehensive search of databases yielded relevant studies, and data from 13 studies (848 eyes) were synthesized to assess the impact of these mutations on metastasis-free survival. The BAP1 mutation and negative immunohistochemistry were associated with a higher risk of metastasis (logHR = 1.44, 95% CI 1.05–1.83). GNAQ, GNA11, and SF3B1 mutations did not show a significant increase in risk. In summary, BAP1 has proven to reliably predict the likelihood of disease progression in uveal melanoma, while further studies are needed to establish the significance of other driver mutations. Full article
(This article belongs to the Special Issue Clinical Diagnosis, Treatment, and Prognosis of Uveal Melanoma)
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