PDF(Pubmed)
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，面临巨大的健康挑战，影响儿科人群，对他们的生活和家庭产生显著影响。这篇全面的综述提供了对各种类型的眼部肿瘤的见解，主要关注恶性眼部肿瘤，他们的遗传倾向，以及管理这些条件的进步。了解遗传风险因素对于早期发现至关重要，风险评估，以及靶向治疗的发展。这篇综述讨论了全基因组关联（GWAS）和下一代测序（NGS）研究，以发现常见和罕见的遗传变异。此外，它还探讨了这些遗传发现在治疗小儿眼癌方面的结果和意义。这些发现强调了遗传研究在指导早期干预和改善眼部癌症儿童预后方面的重要性。
