UNASSIGNED: A search of electronic databases (PubMed, Google Scholar and MEDLINE) of all articles on liquid biopsy in retinoblastoma published in English was performed. The keywords used for the search included \"retinoblastoma\", \"liquid biopsy\", \"aqueous humor\" \"circulating tumor cells\", \"cell-free DNA\", \"cfDNA\", \"circulating tumor DNA\", \"ctDNA\", \"tumor fraction\", \"RB1 mutation\" and \"SNCA\". Additionally, historic articles on the advent of liquid biopsy in medicine were also reviewed. Pertinent cross-references from the studies were reviewed. Retrospective interventional and observational case series, observational case series, prospective cohort studies, reviews, case reports, surgical techniques, invited commentary and letters were included.
UNASSIGNED: A total of 40 relevant articles were selected. Biomarkers in aqueous humor, serum and cerebrospinal fluid and their clinical applications are discussed.
UNASSIGNED: Harvesting aqueous humor from eyes with retinoblastoma has been found safe and superior to blood for the detection of chromosomal changes. cfDNA from aqueous can be a surrogate marker to detect somatic copy number alterations and other genetic alterations in RB. ctDNA in plasma also has potential to help in diagnosis and prognosis of RB. Liquid biopsy in RB is an emerging topic, which could pave way for a better understanding of mechanisms for treatment response, resistance and recurrence in RB as well as possibly provide specific therapeutic targets to improve globe salvage.
未经评估:搜索电子数据库(PubMed,GoogleScholar和MEDLINE)以英文发表的有关视网膜母细胞瘤液体活检的所有文章。用于搜索的关键字包括\"视网膜母细胞瘤\",“液体活检”,\"房水\"\"循环肿瘤细胞\",\"无细胞DNA\",\"cfDNA\",“循环肿瘤DNA”,\"ctDNA\",“肿瘤分数”,“RB1突变”和“SNCA”。此外,还回顾了有关医学中液体活检出现的历史性文章。对这些研究的相关交叉引用进行了综述。回顾性介入和观察性病例系列,观测案例系列,前瞻性队列研究,reviews,病例报告,外科技术,邀请评论和信件都包括在内。
UNASSIGNED:共选取40篇相关文章。房水中的生物标志物,讨论了血清和脑脊液及其临床应用。
UNASSIGNED:从患有视网膜母细胞瘤的眼睛中采集房水已被发现是安全的,并且在检测染色体变化方面优于血液。来自水性的cfDNA可以是检测RB中的体细胞拷贝数改变和其他遗传改变的替代标记。血浆中的ctDNA也可能有助于RB的诊断和预后。RB的液体活检是一个新兴的话题,这可以为更好地理解治疗反应机制铺平道路,RB的耐药性和复发,以及可能提供特定的治疗靶点,以改善全球抢救。