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Advances in Uveal Melanoma
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Advances in Uveal Melanoma

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Molecular Cancer Biology".

Deadline for manuscript submissions: 31 October 2025 | Viewed by 5956

Special Issue Editors

Prof. Dr. Takami Sato

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Guest Editor
Department of Medical Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University, 1015 Walnut Street, 1024 Curtis Building, Philadelphia, PA 19107, USA
Interests: uveal melanoma; cancer immunology; immunotherapy; liver-directed treatment; tumor microenvironment; mouse models
Special Issues, Collections and Topics in MDPI journals
Dr. Mizue Terai

E-Mail Website
Guest Editor
Department of Medical Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University, 1015 Walnut Street, 1015 Curtis Building, Philadelphia, PA 19107, USA
Interests: uveal melanoma; cancer immunology; immunotherapy; tumor microenvironment; mouse models
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Uveal melanoma (UM) is a rare form of melanoma, accounting for approximately 5% of all melanoma cases in the United States. Despite successful treatments of primary UM, up to 50% of UM patients subsequently develop systemic metastases, which spread predominantly to the liver.

Over the last decade, major discoveries have been made in the field of UM, including the identification of Gαq/11 mutations as driver mutations and BAP1 and SF3B1 mutations as epigenetic determinants. Advances in technology also resulted in two treatments being approved by the US FDA, namely T-cell engager, tebemtafusp-tebn (Kimmtrak™), and percutaneous hepatic perfusion with HEPZATO KIT™ (melphalan for injection/hepatic delivery system). These approaches totally changed the landscape of treatment for metastatic uveal melanoma (MUM).

In this Special Issue, we aim to envision the current status of our understanding of UM and discuss the future directions of translational research projects. We hope that this Special Issue will guide researchers in the field of UM to identify a curative approach for MUM patients.

Prof. Dr. Takami Sato
Dr. Mizue Terai
Guest Editors

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
  • eye cancer
  • liver metastasis
  • Gαq/11 mutations
  • BAP1
  • SF3B1
  • PRAME
  • dormancy
  • liver-directed treatment
  • T-cell engager

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Published Papers (4 papers)

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Research

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18 pages, 1819 KiB  
Article
Microdissection of Distinct Morphological Regions Within Uveal Melanomas Identifies Novel Drug Targets
by Elsa Toumi, Luke B. Hesson, Vivian Lin, Dale Wright, Elektra Hajdu, Li-Anne S. Lim, Michael Giblin, Fanfan Zhou, Alexandra Hoffmeister, Farida Zabih, Adrian T. Fung, R. Max Conway and Svetlana Cherepanoff
Cancers 2024, 16(24), 4152; https://doi.org/10.3390/cancers16244152 - 13 Dec 2024
Viewed by 1180
Abstract
Background/Objectives: Uveal melanomas (UMs) are rare but often deadly malignancies that urgently require viable treatment options. UMs often exhibit tumour heterogeneity, with macroscopic and microscopic differences in morphology between different regions of the same tumour. However, to date, the clinical significance of [...] Read more.
Background/Objectives: Uveal melanomas (UMs) are rare but often deadly malignancies that urgently require viable treatment options. UMs often exhibit tumour heterogeneity, with macroscopic and microscopic differences in morphology between different regions of the same tumour. However, to date, the clinical significance of this and how it may help guide personalised therapy have not been realised. Methods: Using targeted DNA and RNA sequencing of a small case series of large, high-risk primary UMs, we explored whether morphologically distinct regions of the same tumour were associated with distinct molecular profiles. Results: In four of the seven tumours analysed, we detected different sets of genetic variants following the separate analysis of microdissected melanotic and amelanotic regions of the same tumour. These included a MET exon 14 skipping RNA transcript that predicts sensitivity to crizotinib and variants in other genes that are important in active clinical trials for patients with UM and advanced solid tumours. The integration of TCGA data also identified recurrent mutational events in genes that were not previously implicated in UM development (FANCA, SLX4, BRCA2, and ATRX). Conclusions: Our findings show that the molecular analysis of spatially separated and morphologically distinct regions of the same tumour may yield additional, therapeutically relevant genetic variants in uveal melanomas and have implications for the future molecular testing of UMs to identify targeted therapies. Full article
(This article belongs to the Special Issue Advances in Uveal Melanoma)
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11 pages, 2287 KiB  
Article
Survival Benefit of Primary Tumor Treatment in Uveal Melanoma: A Re-Analysis of the Collaborative Ocular Melanoma Study (COMS) and Natural History Study (NHS) Cohorts
by Hans Witzenhausen and Gustav Stalhammar
Cancers 2024, 16(22), 3839; https://doi.org/10.3390/cancers16223839 - 15 Nov 2024
Viewed by 866
Abstract
Objective: To evaluate whether primary tumor treatment provides a survival benefit in uveal melanoma by comparing patients who declined treatment (Natural History Study, NHS) with those who received treatment in the Collaborative Ocular Melanoma Study (COMS) for medium-sized choroidal melanomas. Methods: Individual-level survival [...] Read more.
Objective: To evaluate whether primary tumor treatment provides a survival benefit in uveal melanoma by comparing patients who declined treatment (Natural History Study, NHS) with those who received treatment in the Collaborative Ocular Melanoma Study (COMS) for medium-sized choroidal melanomas. Methods: Individual-level survival data were reverse-engineered from cumulative all-cause mortality curves in the original COMS and NHS publications. Censoring patterns were estimated from numbers at risk and descriptive statistics. A Bonferroni-corrected significance level of 0.017 was applied. Additionally, to ensure a conservative approach, NHS cohort data were iteratively adjusted by reducing the 8-year cumulative mortality by one percentage point if the Cox regression hazard ratio for all-cause mortality, the unadjusted risk ratio for death, and the 95% confidence intervals (CIs) of the Kaplan–Meier curves did not show a smaller survival difference than originally reported. Results: Kaplan–Meier analysis revealed significantly higher cumulative mortality in the NHS cohort compared to the COMS cohort (log–rank p = 0.012). When restricting the analysis to the first 8 years to account for unclear censoring patterns beyond this period, the NHS cohort still demonstrated worse survival (p = 0.008). A sensitivity analysis, varying censoring times by ±25% over 1000 iterations, confirmed worse survival in the NHS cohort in 100% of cases. Conclusions: In this re-evaluation, patients who declined treatment for medium-sized choroidal melanomas had significantly worse survival, suggesting a potential survival benefit of primary tumor treatment. Full article
(This article belongs to the Special Issue Advances in Uveal Melanoma)
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19 pages, 2530 KiB  
Article
The Phenotypical Characterization of Dual-Nature Hybrid Cells in Uveal Melanoma
by Emily Marcotte, Alicia Goyeneche, Mohamed Abdouh, Julia Valdemarin Burnier and Miguel Noel Burnier, Jr.
Cancers 2024, 16(18), 3231; https://doi.org/10.3390/cancers16183231 - 22 Sep 2024
Viewed by 1659
Abstract
Background: Metastasis, occurring years after primary diagnosis, represents a poor prognosis in uveal melanoma (UM)-affected individuals. The nature of cells involved in this process is under debate. Circulating hybrid cells that have combined tumor and immune cell features found in blood were predictive [...] Read more.
Background: Metastasis, occurring years after primary diagnosis, represents a poor prognosis in uveal melanoma (UM)-affected individuals. The nature of cells involved in this process is under debate. Circulating hybrid cells that have combined tumor and immune cell features found in blood were predictive of metastasis and may correspond to dual-nature cells (DNC) in the primary tumor. Herein, we sought to determine the presence of DNCs in primary UM tumors, the cell types involved in their genesis, and their ability to be formed in vitro. Methods: UM lesions (n = 38) were immunolabeled with HMB45 in combination with immune-cell-specific antibodies. In parallel, we co-cultured UM cells and peripheral blood mononuclear cells (PBMCs) to analyze DNC formation. Results: HMB45+/CD45+ DNCs were present in 90% (26/29) of the tumors, HMB45+/CD8+ DNCs were present in 93% (26/28), and HMB45+/CD68+ DNCs were present in 71% (17/24). DNCs formed with CD8+ and CD68+ cells were positively correlated to the infiltration of their respective immune cells. Notably, UM cells were prone to hybridize with PBMCs in vitro. Conclusions: This phenotypical characterization of DNCs in UM demonstrates that CD8+ T-cells and macrophages are capable of DNC formation, and they are important for better understanding metastatic dissemination, thus paving the path towards novel therapeutic avenues. Full article
(This article belongs to the Special Issue Advances in Uveal Melanoma)
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Review

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20 pages, 1030 KiB  
Review
GNAQ/GNA11-Related Benign and Malignant Entities—A Common Histoembriologic Origin or a Tissue-Dependent Coincidence
by Justyna Pilch, Jakub Mizera, Maciej Tota and Piotr Donizy
Cancers 2024, 16(21), 3672; https://doi.org/10.3390/cancers16213672 - 30 Oct 2024
Viewed by 1639
Abstract
Uveal melanoma (UM), recognized as the most prevalent primary intraocular malignancy in adults, is primarily driven by mutations in the GNAQ and GNA11 genes. These genetic alterations are also implicated in other conditions, which exhibit distinct morphological characteristics. In this article, we investigate [...] Read more.
Uveal melanoma (UM), recognized as the most prevalent primary intraocular malignancy in adults, is primarily driven by mutations in the GNAQ and GNA11 genes. These genetic alterations are also implicated in other conditions, which exhibit distinct morphological characteristics. In this article, we investigate the role of GNAQ and GNA11 mutations across varied disorders (e.g., UM, skin blue nevi, and hemangiomas), emphasizing the shared pathogenic mechanisms that connect them despite their differing clinical manifestations. By investigating the molecular pathways affected by these mutations, we provide insights into the potential for targeted therapies that could address not only UM but also other disorders associated with GNAQ/GNA11 mutations. Moreover, we discuss the role of SOX10-positive perivascular cells that may be implicated in the complex pathophysiology of GNAQ/GNA11-related entities. Understanding the common molecular foundation of these conditions opens new ways for research and treatment opportunities, potentially leading to more effective, personalized therapeutic strategies. Full article
(This article belongs to the Special Issue Advances in Uveal Melanoma)
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