ArticlePLoS genetics2020
Genomic and transcriptomic landscape of conjunctival melanoma.
Article in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 35 citations in OpenAlex.
- Spatial Transcriptomics Recontextualizes the Cellular Environment of Conjunctival Melanoma.medRxiv : the preprint server for health sciences · 2026Article
- Precision Oncology in Ocular Melanoma: Integrating Molecular and Liquid Biopsy Biomarkers.Current issues in molecular biology · 2026Review
- Downregulation of Cyclin Kinase Inhibitors p16INK4a and p27 in Conjunctival Melanomas.Investigative ophthalmology & visual science · 2026Article
- Conjunctival melanoma genomic analysis reveals intermediate tumor mutation burden and genomic overlap with cutaneous melanoma.NPJ precision oncology · 2025Article
- PAX3 expression patterns in ocular surface melanocytes.Scientific reports · 2025Article
- Malignant melanoma of the conjunctiva metastasizing to the submandibular gland: a case report and review of the literature.BMC ophthalmology · 2025Review
- Conjunctival melanoma: comprehensive insights into clinical features, genetic alterations, and modern treatment approaches.Pathology oncology research : POR · 2025Review
- Treatment of Conjunctival Melanoma Cell Lines With a Light-Activated Virus-Like Drug Conjugate Induces Immunogenic Cell Death.Investigative ophthalmology & visual science · 2024Article
- Lactate secreted by glycolytic conjunctival melanoma cells attracts and polarizes macrophages to drive angiogenesis in zebrafish xenografts.Angiogenesis · 2024Article
- Review
- Conjunctival Melanoma: A Clinical Review and Update.Cancers · 2024Review
- DCS, a novel classifier system based on disulfidptosis reveals tumor microenvironment heterogeneity and guides frontline therapy for clear cell renal carcinoma.Journal of the National Cancer Center · 2024Article
- Genetic landscape and prognosis of conjunctival melanoma in Chinese patients.The British journal of ophthalmology · 2024Article
- Incidence and Mortality of Conjunctival Melanoma in Australia (1982 to 2014).Investigative ophthalmology & visual science · 2023Article
- Worldwide Incidence of Ocular Melanoma and Correlation With Pigmentation-Related Risk Factors.Investigative ophthalmology & visual science · 2023Article
- Review
- Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening.Cancers · 2022Article
- IGF-1R is a molecular determinant for response to p53 reactivation therapy in conjunctival melanoma.Oncogene · 2022Article
- Small but Challenging Conjunctival Melanoma: New Insights, Paradigms and Future Perspectives.Cancers · 2021Review
- 5-Hydroxymethylcytosine Loss in Conjunctival Melanoma.Dermatopathology (Basel, Switzerland) · 2021Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Conjunctival melanoma (CJM) is a rare but potentially lethal and highly-recurrent cancer of the eye. Similar to cutaneous melanoma (CM), it originates from melanocytes. Unlike CM, however, CJM is relatively poorly characterized from a genomic point of view. To fill this knowledge gap and gain insight into the genomic nature of CJM, we performed whole-exome (WES) or whole-genome sequencing (WGS) of tumor-normal tissue pairs in 14 affected individuals, as well as RNA sequencing in a subset of 11 tumor tissues. Our results show that, similarly to CM, CJM is also characterized by a very high mutation load, composed of approximately 500 somatic mutations in exonic regions. This, as well as the presence of a UV light-induced mutational signature, are clear signs of the role of sunlight in CJM tumorigenesis. In addition, the genomic classification of CM proposed by TCGA seems to be well-applicable to CJM, with the presence of four typical subclasses defined on the basis of the most frequently mutated genes: BRAF, NF1, RAS, and triple wild-type. In line with these results, transcriptomic analyses revealed similarities with CM as well, namely the presence of a transcriptomic subtype enriched for immune genes and a subtype enriched for genes associated with keratins and epithelial functions. Finally, in seven tumors we detected somatic mutations in ACSS3, a possible new candidate oncogene. Transfected conjunctival melanoma cells overexpressing mutant ACSS3 showed higher proliferative activity, supporting the direct involvement of this gene in the tumorigenesis of CJM. Altogether, our results provide the first unbiased and complete genomic and transcriptomic classification of CJM.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.