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儿童眼部肿瘤的遗传风险因素与临床结局:综述

Genetic Risk Factors and Clinical Outcomes in Childhood Eye Cancers: A Review.

机构信息

Research Department, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.

Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy.

出版信息

Genes (Basel). 2024 Feb 22;15(3):276. doi: 10.3390/genes15030276.

Abstract

Childhood eye cancers, although rare, present substantial health challenges, affecting the pediatric population with a remarkable impact on their lives and families. This comprehensive review provides insights into the various types of ocular tumors, primarily focusing on malignant eye tumors, their genetic predispositions, and advancements in managing these conditions. Understanding the genetic risk factors is crucial for early detection, risk assessment, and the development of targeted therapies. This review discusses genome-wide association (GWAS) and next-generation sequencing (NGS) studies to find common and rare genetic variants. Furthermore, it also explores the outcomes and implications of these genetic discoveries in treating pediatric ocular cancer. These findings underscore the significance of genetic research in guiding early interventions and improving outcomes in children with ocular cancers.

摘要

儿童眼癌虽然罕见,但却带来了巨大的健康挑战,对儿科人群产生了重大影响,对他们的生活和家庭产生了深远的影响。本综述深入探讨了各种眼部肿瘤,主要聚焦于恶性眼肿瘤、其遗传倾向以及这些疾病管理方面的进展。了解遗传风险因素对于早期检测、风险评估和靶向治疗的发展至关重要。本综述讨论了全基因组关联(GWAS)和下一代测序(NGS)研究,以寻找常见和罕见的遗传变异。此外,还探讨了这些遗传发现对治疗儿科眼部癌症的结果和意义。这些研究结果强调了遗传研究在指导儿童眼部癌症的早期干预和改善结果方面的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8ce/10970510/26a8495e7883/genes-15-00276-g001.jpg

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