Abstract：
UNASSIGNED: Retinoblastoma (RB) is the most common intraocular malignancy in children. The diagnosis of RB is mainly based on clinical features and imaging characteristics. Prognosis is based on stage of disease and response to treatment. In salvaged globes, direct tumor biopsy for genetic analysis and prognostication is an absolute contraindication at this point of time for the fear of extraocular tumor spread. Currently, there is a search for surrogate markers to allow accurate diagnosis and for prognostication, to predict the chances of globe salvage in RB. Therefore, biofluids such as plasma or aqueous humor have been studied to detect circulating tumor DNA (ctDNA) or cell-free DNA (cfDNA), respectively, to allow for treatment decision making, monitoring treatment response, and prognostic counselling.
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.
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.
摘要：
未经证实：视网膜母细胞瘤（RB）是儿童最常见的眼内恶性肿瘤。RB的诊断主要基于临床特征和影像学特征。预后取决于疾病的阶段和对治疗的反应。在打捞的地球仪中，直接肿瘤活检进行基因分析和预后是一个绝对的禁忌症，在这个时间点，因为担心眼外肿瘤扩散。目前,寻找替代标记以进行准确的诊断和预测，来预测RB全球救助的机会。因此,已经研究了血浆或房水等生物流体以检测循环肿瘤DNA（ctDNA）或无细胞DNA（cfDNA），分别,为了做出治疗决策，监测治疗反应，和预后咨询。
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。
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。
