UVEAL MELANOMA: A REVIEW DOI Open Access

Silvio Tibo Cardoso Filho,

Luan Mendes de Matos

International Journal of Health Science, Journal Year: 2023, Volume and Issue: 4(1), P. 2 - 7

Published: Dec. 29, 2023

To understand the relevant aspects regarding Uveal Melanoma.Methods: This is a literature review using terms: "uveal melanoma", "choroidal "ciliary body melanoma" and "iris in PubMed Medline databases, with articles selected from among 2017 2023 that best relate to objectives of this work, which most important disease.Literature Review: Melanoma serious cancer originating melanin-producing cells, predominantly found skin mucous membranes, but occasionally affecting eyes.Representing around 5% ocular cases, uveal melanoma, especially choroid, common adults.Risk factors include fair skin, advanced age genetic predisposition.Symptoms vary depending on size location tumor, making diagnosis challenging.Treatments such as Thermotherapy Brachytherapy depend specific characteristics lesion delays result worse prognosis, tumor being critical indicator.Understanding clinical, molecular crucial stratify risks guide therapies, highlighting need for personalized approaches improve outcomes reduce mortality rates.

Language: Английский

Pharmacogenomics: A Genetic Approach to Drug Development and Therapy DOI Creative Commons
Rowaid Qahwaji, Ibraheem Ashankyty, Naif S. Sannan

et al.

Pharmaceuticals, Journal Year: 2024, Volume and Issue: 17(7), P. 940 - 940

Published: July 13, 2024

The majority of the well-known pharmacogenomics research used in medical sciences contributes to our understanding medication interactions. It has a significant impact on treatment and drug development. broad use is required for progress therapy. main focus how genes an intricate gene system affect body’s reaction medications. Novel biomarkers that help identify patient group more or less likely respond certain have been discovered as result recent developments field clinical therapeutics. aims improve customized therapy by giving appropriate at right dose time making sure prescriptions are issued. A combination genetic, environmental, variables pharmacokinetics and/or pharmacodynamics medications results interindividual variance response. Drug development, illness susceptibility, efficacy all impacted pharmacogenomics. purpose this work give review might serve foundation creation new applications, techniques, strategies.

Language: Английский

Citations

9
Next-generation sequencing impact on cancer care: applications, challenges, and future directions DOI Creative Commons
Mariano Zalis, Gilson Gabriel Viana Veloso, Pedro Nazareth Aguiar

et al.

Frontiers in Genetics, Journal Year: 2024, Volume and Issue: 15

Published: July 9, 2024

Fundamentally precision oncology illustrates the path in which molecular profiling of tumors can illuminate their biological behavior, diversity, and likely outcomes by identifying distinct genetic mutations, protein levels, other biomarkers that underpin cancer progression. Next-generation sequencing became an indispensable diagnostic tool for diagnosis treatment guidance current clinical practice. Nowadays, tissue analysis benefits from further support through methods like comprehensive genomic liquid biopsies. However, medicine field presents specific hurdles, such as cost-benefit balance widespread accessibility, particularly countries with low- middle-income. A key issue is how to effectively extend next-generation all patients, thus empowering decision-making. Concerns also quality preservation samples, well evaluation health technologies. Moreover, technology advances, novel assessments are being developed, including study Fragmentomics. Therefore, our objective was delineate primary uses sequencing, discussing its’ applications, limitations, prospective paths forward Oncology.

Language: Английский

Citations

6
Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial DOI Creative Commons

Mélanie Godiveau,

Angeline Ginzac, Yannick Bidet

et al.

Frontiers in Oncology, Journal Year: 2025, Volume and Issue: 15

Published: Jan. 24, 2025

Introduction Uveal melanoma (UM) is a rare ocular cancer. While germline mutations in genes such as BAP1 and MBD4 account for approximately 20% of familial UM cases, the hereditary factors underlying remaining cases remain unknown. Epidemiological studies have suggested an increased risk prostate cancer, thyroid leukemia among patients with UM, indicating potential unidentified genetic predispositions. This study aims to identify new candidate associated predisposition UM. Methods single-center study, conducted at Centre Jean Perrin, will involve exome sequencing 50 who do not harbor known pathogenic variants or genes. The primary objective novel cancer patients. A several-step-bioinformatic analysis be interest. secondary explore involved other cancers, already described occurrence uveal melanoma, but where association has been fully established yet. begun October 2024, patient recruitment lasting 12 months. No follow-up period planned, duration analyses estimated six months, final report expected by 2026. Discussion identification could significantly enhance counselling surveillance strategies families affected. also contribute better understanding landscape potentially leading more personalized effective options its detection. Trial registration ClinicalTrials.gov , identifier NCT06550674, registered August 2024. Protocol: version 1.0, January 18 th

Language: Английский

Citations

0
Recent Advances in Molecular and Genetic Research on Uveal Melanoma DOI Creative Commons
Aurélie Fuentes-Rodriguez,

Andrew Mitchell,

Sylvain L. Guérin

et al.

Cells, Journal Year: 2024, Volume and Issue: 13(12), P. 1023 - 1023

Published: June 12, 2024

Uveal melanoma (UM), a distinct subtype of melanoma, presents unique challenges in its clinical management due to complex molecular landscape and tendency for liver metastasis. This review highlights recent advancements understanding the pathogenesis, genetic alterations, immune microenvironment UM, with focus on pivotal genes, such as GNAQ/11, BAP1, CYSLTR2, delves into distinctive chromosomal classifications emphasizing role mutations rearrangements disease progression metastatic risk. Novel diagnostic biomarkers, including circulating tumor cells, DNA extracellular vesicles, are discussed, offering potential non-invasive approaches early detection monitoring. It also explores emerging prognostic markers their implications patient stratification personalized treatment strategies. Therapeutic approaches, histone deacetylase inhibitors, MAPK pathway trends concepts like CAR T-cell therapy, evaluated efficacy UM treatment. identifies research, limited options need improved tools, suggests future directions, discovery novel therapeutic targets, immunotherapeutic strategies, advanced drug delivery systems. The concludes by importance continued research innovation addressing improve outcomes develop more effective

Language: Английский

Citations

1
UVEAL MELANOMA: A REVIEW DOI Open Access

Silvio Tibo Cardoso Filho,

Luan Mendes de Matos

International Journal of Health Science, Journal Year: 2023, Volume and Issue: 4(1), P. 2 - 7

Published: Dec. 29, 2023

To understand the relevant aspects regarding Uveal Melanoma.Methods: This is a literature review using terms: "uveal melanoma", "choroidal "ciliary body melanoma" and "iris in PubMed Medline databases, with articles selected from among 2017 2023 that best relate to objectives of this work, which most important disease.Literature Review: Melanoma serious cancer originating melanin-producing cells, predominantly found skin mucous membranes, but occasionally affecting eyes.Representing around 5% ocular cases, uveal melanoma, especially choroid, common adults.Risk factors include fair skin, advanced age genetic predisposition.Symptoms vary depending on size location tumor, making diagnosis challenging.Treatments such as Thermotherapy Brachytherapy depend specific characteristics lesion delays result worse prognosis, tumor being critical indicator.Understanding clinical, molecular crucial stratify risks guide therapies, highlighting need for personalized approaches improve outcomes reduce mortality rates.

Language: Английский

Citations

0