Genetics and RNA Regulation of Uveal Melanoma

Barbagallo, Cristina; Stella, Michele; Broggi, Giuseppe; Russo, Andrea; Caltabiano, Rosario; Ragusa, Marco

doi:10.3390/cancers15030775

Cited by 13 publications

(9 citation statements)

References 289 publications

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“…BAP1-inactivating mutations are found in approximately 47% of primary uveal melanoma and 84% of metastatic uveal melanoma cases, consistent with an association between BAP1 mutations and poor prognosis ( 50 ). Chromosome 3 loss has long been the strongest indicator of metastatic disease in UM patients ( 51 ). Combined with our data, biomarkers represented by bap1 will be the future hot spot for immunotherapy of ocular melanoma.…”

Section: Discussionmentioning

confidence: 99%

Immunotherapy for ocular melanoma: a bibliometric and visualization analysis from 1991 to 2022

Tan

Chen

et al. 2023

Front. Oncol.

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BackgroundIn recent years, new therapeutic options to overcome the mechanisms of tumor immune suppression be effective in the treatment of cutaneous melanoma. These approaches have also been applied in ocular melanoma. The aim of this study is to present the current status and research hotspots of immunotherapy for ocular melanoma from a bibliometric perspective and to explore the field of immunotherapy for malignant ocular melanoma research.MethodsIn this study, the Web of Science Core Collection database (WoSCC) and Pubmed were selected to search the literature related to immunotherapy of ocular melanoma. Using VOSviewer, CiteSpace, the R package “bibliometrix,” and the bibliometric online platform through the construction and visualization of bibliometric networks, the country/region, institution, journal, author, and keywords were analyzed to predict the most recent trends in research pertaining to ocular melanoma and immunotherapy.ResultsA total of 401 papers and 144 reviews related to immunotherapy of ocular melanoma were included. The United States is the main driver of research in the field, ranking first in terms of the number of publications, total citations, and H-index. The UNIVERSITY OF TEXAS SYSTEM is the most active institution, contributing the most papers. Jager, Martine is the most prolific author, and Carvajal, Richard is the most frequently cited author. CANCERS is the most published journal in the field and J CLIN ONCOL is the most cited journal. In addition to ocular melanoma and immunotherapy, the most popular keywords were “uveal melanoma” and “targeted therapy”. According to keyword co-occurrence and burst analysis, uveal melanoma, immunotherapy, melanoma, metastases, bap1, tebentafusp, bioinformatics, conjunctival melanoma, immune checkpoint inhibitors, ipilimumab, pembrolizumab, and other research topics appear to be at the forefront of this field’s research and have the potential to remain a hot research topic in the future.ConclusionThis is the first bibliometric study in the last 30 years to comprehensively map the knowledge structure and trends in the field of research related to ocular melanoma and immunotherapy. The results comprehensively summarize and identify research frontiers for scholars studying immunotherapy associated with ocular melanoma.

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Section: Discussionmentioning

confidence: 99%

Immunotherapy for ocular melanoma: a bibliometric and visualization analysis from 1991 to 2022

Tan

Chen

et al. 2023

Front. Oncol.

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“…These genetic changes have a significant impact on the prognosis of patients and are crucial in classifying them into different risk groups. The most common chromosomal aberrations in primary UM are the loss of 1p (28-34%), a gain of 1q (24%), loss of 3 (50-61%), gain of 6p (28-54%), gain of 6q (28-54%), loss of 6q (35-37%), loss of 8p (17-28%), gain of 8q (36-63%), loss of 9p (24%), and loss of 16q (16%) [103][104][105][106].…”

Section: Signaling Pathways Involved In Melanoma Development and Prog...mentioning

confidence: 99%

Heterogeneity and molecular landscape of melanoma: implications for targeted therapy

Beigi,

Lanjanian,

Fayazi

et al. 2024

Mol Biomed

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Uveal cancer (UM) offers a complex molecular landscape characterized by substantial heterogeneity, both on the genetic and epigenetic levels. This heterogeneity plays a critical position in shaping the behavior and response to therapy for this uncommon ocular malignancy. Targeted treatments with gene-specific therapeutic molecules may prove useful in overcoming radiation resistance, however, the diverse molecular makeups of UM call for a patient-specific approach in therapy procedures. We need to understand the intricate molecular landscape of UM to develop targeted treatments customized to each patient's specific genetic mutations. One of the promising approaches is using liquid biopsies, such as circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA), for detecting and monitoring the disease at the early stages. These non-invasive methods can help us identify the most effective treatment strategies for each patient. Single-cellular is a brand-new analysis platform that gives treasured insights into diagnosis, prognosis, and remedy. The incorporation of this data with known clinical and genomics information will give a better understanding of the complicated molecular mechanisms that UM diseases exploit. In this review, we focused on the heterogeneity and molecular panorama of UM, and to achieve this goal, the authors conducted an exhaustive literature evaluation spanning 1998 to 2023, using keywords like "uveal melanoma, “heterogeneity”. “Targeted therapies”," "CTCs," and "single-cellular analysis".

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“…Research in this area may aid in identifying valuable biomarkers for diagnostic and prognostic purposes and new treatment methods with the aim of selecting patients who would achieve the most benefit. Assessment of the risk for metastases could be achieved by genetic and epigenetic profiling of UM tumor tissue [ 21 , 24 , 31 , 135 , 136 , 137 ]. Future research should take into consideration how the tumor cells evade the immune system in order to develop new therapies that would affect these pathways.…”

Section: Current Challenges and Clinical Implicationsmentioning

confidence: 99%

“…The 5-year survival rate of UM patients is between 50 and 70% and has remained unchanged over the past decades [ 2 , 5 , 9 , 22 , 23 ]. In the presence of metastatic disease, the median overall survival rate is 6–12 months [ 24 , 25 ], where 8% of patients survive for more than two years [ 16 , 17 ].…”

Section: Introductionmentioning

confidence: 99%

Genetic and Epigenetic Features of Uveal Melanoma—An Overview and Clinical Implications

Pašalić

Nikuševa-Martić

Sekovanić

et al. 2023

IJMS

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Uveal melanoma (UM) is rare, but it is the most common primary intraocular malignancy among adults. This review represents the molecular, genetic, and immunobiological mechanisms involved in UM carcinogenesis and progression, as well as data about the association of chromosomal changes, genetic mutations, selective proteins, and biochemical biomarkers with the clinical implications of UM. Genetic analysis has the potential to identify patients with a high risk of UM metastasis, enabling management that is more effective and allowing for the follow-up of patients. Advancements in molecular characterization of UM offer opportunities to develop targeted therapeutic strategies by focusing on relevant signaling pathways. Changes in miRNA expression could be useful in the diagnosis and prognosis of UM, due to unique miRNA profiles in melanoma cells or tissue and its association with metastasis. Although liver function tests do not provide enough data on the prognosis of UM, due to the high frequency of liver metastasis, liver function tests (LFTs) might be useful indicators; however, the absence of rising LFT values cannot lead to the exclusion of liver metastases. Molecular analysis of tumor tissue will allow us to identify patients with the added benefit of new therapeutic agents and provide a better insight into melanoma pathogenesis and its biological behavior.

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Genetics and RNA Regulation of Uveal Melanoma

Cited by 13 publications

References 289 publications

Immunotherapy for ocular melanoma: a bibliometric and visualization analysis from 1991 to 2022

Immunotherapy for ocular melanoma: a bibliometric and visualization analysis from 1991 to 2022

Heterogeneity and molecular landscape of melanoma: implications for targeted therapy

Genetic and Epigenetic Features of Uveal Melanoma—An Overview and Clinical Implications

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