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At least 19 recordsLinked to original sources
PubMed2026

Prevalence of the Predisposing Gene MBD4 for Uveal Melanoma.

IMPORTANCE: MBD4 monoallelic germline pathogenic and likely pathogenic variants have recently been identified as predisposing to uveal melanoma, a rare primary intraocular tumor, with an estimated 9.15-fold increased risk of developing the disease for pathogenic variant carriers. OBJECTIVE: To assess the risk of developing uveal melanoma for carriers of the MBD4 monoallelic germline pathogenic variant. DESIGN, SETTING, AND PARTICIPANTS: In a case series involving 896 individuals, including 319 who were previously evaluated, germline target-sequencing of MBD4 was offered to every new patient with uveal melanoma at Curie Institute from February 2021 to September 2025. Non-Finnish European participants from the Genome Aggregation Database were used as a reference population. EXPOSURE: Diagnosis of uveal melanoma genetic predisposition. MAIN OUTCOMES AND MEASURES: Prevalence of MBD4 variants. RESULTS: A total of 23 of 896 patients were identified as carrying an MBD4 germline pathogenic or likely pathogenic variant, corresponding to a relative risk of 31.44 (95% CI, 18.18-53.00) of developing uveal melanoma compared with the general population (2-sided Fisher exact test, P&#x2009;<&#x2009;.001). CONCLUSIONS AND RELEVANCE: These findings confirm that MBD4 is an important predisposing gene to uveal melanoma in the French population. This reinforces a strategy of broad patient screening given the therapeutic implications and the consequences of genetic counseling.

Humans↗
PubMed2025

Uveal Melanoma and the Lynch Syndrome Tumor Spectrum.

IMPORTANCE: To date, no environmental factors and few therapeutic options are known for uveal melanoma (UM), the most common malignant intraocular primary tumor in adults. Identification of new predisposition factors could lead to better monitoring and possibly improved treatments of patients with UM. OBJECTIVE: To identify new genetic alterations predisposing for UM. DESIGN, SETTING, AND PARTICIPANTS: This was a prospective cohort study conducted at Institut Curie in Paris, France, among 381 consecutive patients diagnosed with UM between July 2021 and February 2023. UM was diagnosed clinically by ophthalmologists, and a senior pathologist confirmed the diagnosis when tumor or biopsy was available. All participants received genetic counseling and consented to extended genetic testing. A panel of 122 genes predisposing to cancer were analyzed by targeted sequencing on germline DNA from these patients. MAIN OUTCOMES AND MEASURES: Frequency of pathogenic variants (PVs) in genes from a targeted panel, with classification of germline PVs done according to the American College of Medical Genetics and Genomics guidelines and the French Unicancer Genetics Group. RESULTS: A total of 79 PVs were identified in 70 participants (41 female and 29 male; mean [SD] age, 60.6 [15.3] years). Among them, 21 were found in clinically relevant genes, with an enrichment in the mismatch repair (MMR) genes, involved in Lynch syndrome, a frequent predisposition to colon and endometrial cancers. This finding suggested MMR germline PVs could also predispose to UM. One tumor was available from a participant carrying a MLH1 germline PV. The tumor exhibited a monosomy 3 with loss of the wild-type allele of MLH1, located on chromosome 3. Loss of expression of MLH1 was observed by immunohistochemistry, and MMR variant signatures SBS6, ID1, and ID2 were identified from the whole-genome sequencing of this tumor, supporting the possibility that MLH1 contributes to the oncogenesis of this UM. CONCLUSIONS AND RELEVANCE: This prospective germline study on patients with UM provided evidence supporting the notion that MMR germline alterations are enriched among patients with UM and may contribute to oncogenesis of UM, and that UM may therefore be a rare tumor manifestation of Lynch syndrome.

Humans↗
PubMed1979

Ultrasonically guided needle biopsy and cytologic diagnosis of solid intraocular tumors.

Six solid intraocular tumors were reliably diagnosed by needle biopsies and cytologic examination of the aspirates. All of the tumors had an unusual clinical or diagnostic feature that raised the possibility of a non-melanomatous tumor. Two intraocular lesions that were obscured by opaque media or a retinal detachment were successfully biopsied under B-scan ultrasonographic guidance of the needle. Cytodiagnosis of narrow spindle B, plump spindle B, and eipthelioid cell types, as well as one case of Coats' disease, was possible and correlated closely with the predominant cell types comprising the lesions discovered on histopathologic examination of the globes that were enucleated. The ocular tissues were not significantly disturbed and hemorrhage was not a serious problem. Details of the biopsy and cytologic techniques, the major clinical indications, for the procedure, and the authors' belief that the procedure is not likely to produce local seeding or extraocular metastasis in cases of melanoma are presented and discussed. Considerable profit may attend the use of this technique for the diagnosis of possible metastatic lesions and tumors of the ciliary body. The technique, however, should not be routinely employed and should be restricted to extremely difficult diagnostic problems.

Adult↗
PubMed2026

GWAS meta-analysis provides new insights into uveal melanoma risk.

OBJECTIVE: The aim of this research is to identify germline genetic variants that predispose to uveal melanoma (UM) using data from nine studies involving 5839 individuals with UM (3853 novel) and 349,863 healthy controls. METHODS: Five novel UM genome-wide association studies (GWAS) were performed and included for meta-analysis with four previously published UM GWAS. A fixed-effects inverse-variance weighted (IVW) meta-analysis was performed by combining data from these nine UM case-control cohorts. A follow-up transcriptome-wide association study (TWAS) was conducted to identify candidate target genes at UM risk loci. Genetic correlations with melanoma-related phenotypes were measured to elucidate UM's genetic architecture. RESULTS: We identify nine linkage disequilibrium (LD)-independent loci (three novel) with an IVW P value of less than 5&#x2009;&#xd7;&#x2009;10-8. TWAS analysis indicates five potential target genes, including MOB3B, RBAK, and MTSS1, which have established links to multiple cancer types. We note a significant genetic correlation (rg&#x2009;=&#x2009;0.31, P&#x2009;=&#x2009;0.01) between UM and cutaneous melanoma (CM), and a non-significant but consistent correlation with naevus count (rg&#x2009;=&#x2009;0.25, P&#x2009;=&#x2009;0.08). CONCLUSIONS: This meta-analysis offers new insights into the genetic architecture of UM, highlights potential therapeutic targets, and explores the genetic relationship with CM and skin pigmentation.

Humans↗
PubMed1979

Cryopexy of a choroidal melanoma.

Transconjunctival cryopexy was applied to a malignant melanoma of the ciliary body and choroid of a 46-year-old white man. The tumor immediately became gray-white and pigment cells were liberated in the anterior chamber. Subsequently, an enucleation was performed which showed a localized area of cryodestruction of the melanoma which was lined by macrophages. The significance of this finding in implications for the use of cryopexy in the management of melanomas are discussed.

Choroid Neoplasms↗
PubMed1979

Metastatic disease from untreated uveal melanomas.

Few ophthalmologists or pathologists have observed uveal melanomas that metastasized before they were recognized and treated. In an effort to characterize those melanomas that have produced metastatic disease before the tumor-containing eye was enucleated, we have collected a series of 29 cases for review. These have generally involved older subjects (median age 65 years) who had large tumors that had been symptomatic for long periods before being recognized. A disproportionately large percentage showed extraocular extension. Although the data support the thesis that uveal melanomas are typically slow-growing tumors that show local infiltrative properties but little tendency to produce metastatic disease unless treated by enucleation of the eye, it is possible that the available information is possibly biased by our methods of acquisition of data. Much pertinent information is lost because the cases usually do not come to the attention of ophthalmologists or ophthalmic pathologist. This missing link in our knowledge of the natural course of untreated uveal melanomas is one of several factors that make it impossible to determine whether the overall effects of enucleation have been beneficial or harmful in the management of this disease.

Adult↗
PubMed1979

Diagnosis and management of cancer metastatic to the uvea: a study of 70 cases.

Although metastatic cancer to the uvea is reported to be the most common intraocular malignancy, most ophthalmologists have had little experience with its diagnosis and treatment. This report describes our experience with the diagnosis and management of 70 patients with metastatic cancer to the uvea. Many patients were evaluated with modern diagnostic modalities such as fluorescein angiography, ultrasonography, and the 32P test when indicated. Thirty-one percent of patients had no history of previous malignancy, and the ocular complaints represented the first symptoms of systemic cancer. The ocular malignancy often simulated better-known ophthalmic entities, and the referring diagnosis was correct in only 38% of cases. This series, therefore, reflects the clinical problem confronting the practicing ophthalmologist. About one-half of the patients were treated with external beam irradiation to the involved eye(s), which often resulted in dramatic resolution of the tumor and visual return. Other patients had either no treatment, chemotherapy, or enucleation in selected instances.

Adult↗
PubMed2026

Establishment of Stable Immortalized Human Choroidal Melanocytes for Ocular Research.

PURPOSE: The short lifespan of primary normal choroidal melanocytes (NCMs) in vitro represents a major barrier to mechanistic, functional, and translational studies of choroid biology and uveal melanoma (UM). This study aimed to establish and characterize immortalized human NCM lines that retain melanocytic function, maintain a non-cancerous profile, and are amenable to gene editing. METHODS: NCMs from four donors were immortalized by lentiviral transduction of cyclin-dependent kinase 4 (CDK4R24C), cyclin D1, and human telomerase reverse transcriptase (hTERT), establishing NCM-K4DT lines. Their morphology, melanocytic marker expression, proliferation, and functional properties (melanin synthesis and tyrosinase activity) were evaluated. Genomic stability was assessed by targeted mutation profiling, karyotyping, and copy number variation (CNV) analysis. The tumorigenicity was tested in immunodeficient mice. Plasmid-based CRISPR/Cas9 editing was performed to determine their suitability for gene editing. RESULTS: NCM-K4DT lines retained dendritic-shaped morphology, pigmentation, and expression of PMEL, TYRP1, Melan-A, and SOX10. Cells exhibited enhanced proliferative capacity with preserved cell cycle regulation. Melanin production and tyrosinase activity were comparable to primary NCMs. Genomic profiling confirmed the absence of UM-associated driver mutations and chromosomal abnormalities. In vivo growth assays demonstrated that NCM-K4DT lines did not form tumors within the 3-month observation period. Notably, NCM-K4DT cells were efficiently edited by CRISPR/Cas9. CONCLUSIONS: NCM-K4DT lines represent stable, non-cancerous, and genetically tractable models for studying choroidal melanocyte biology, modeling UM-associated mechanisms, and advancing therapeutic development in ocular research.

Humans↗
PubMed1979

Iris melanoma.

Explore the source record for details and available documents.

Adult↗
PubMed1978

Ocular involvement in hamsters transplanted with a human leukemic T-cell line.

A leukemic T-cell line (TALL-1) was serially transplanted for 5 passages into newborn hamsters treated with antilymphocyte serum. This cell line was derived from a leukemic patient with clinical evidence of ocular involvement. I.p. implantation of 1--3 X 10(7) cells resulted in disseminated growth of tumors in all 15 recipients after 23--41 days and 8 of them showed leukemic infiltration of the uveal tract of one or both eyes.

Adult↗
PubMed1977

Evaluation of metastatic cancer to the eye. Carcinoembryonic antigen and gamma glutamyl transpeptidase.

Plasma carcinoembryonic antigen (CEA) and gamma glutamyl transpeptidase (GTP) were studied in 24 patients with cancer metastatic to the uveal tract. Eighty-three percent demonstrated elevated CEA levels, while only 36% (49 of 135 patients) with primary uveal melanoma showed elevated levels. While none of the uveal melanoma patients had a CEA value greater than 10 ng/ml, 58% (14) of the patients with metastatic tumors to the uvea had values greater than 10 ng/ml. Forty-six percent (11) of patients with metastatic tumors to the uvea demonstrated elevated GTP levels that correlated with documentation of liver metastases. Ninety-two percent of the patients with metastatic cancer to the uvea had either an elevated CEA or GTP level. When used together, plasma CEA and GTP levels appear to be helpful in differentiating metastatic tumors to the uvea from primary uveal melanomas. These assays also appear to be useful in determining tumor burden and concurrent hepatic involvement in patients with metastatic tumors to the uvea.

Acyltransferases↗