房水检测在视网膜母细胞瘤诊治中的应用

Application of aqueous humor liquid biopsy in diagnosis and treatment of retinoblastoma

视网膜母细胞瘤(retinoblastoma,RB)是儿童最常见的眼内恶性肿瘤,由于其肿瘤组织松散,活检在RB中是禁忌。房水中含有丰富的生物学信息,且获取较为安全。近期研究发现,RB患儿房水中无细胞DNA、三叶因子家族肽、生存素、神经元特异性烯醇化酶等相关生物标记物,在RB患儿的早期诊断、眼别特异性诊断、肿瘤侵袭性预测、治疗效果观察、预后评估中可能发挥重要作用,或成为RB诊断及疗效观察中的有力工具。

Retinoblastoma(RB)is the most common intraocular malignancy in children.Biopsy is contraindicated in RB due to its loose tumor tissue.Aqueous humor contains rich biological information and safe to access.Recent studies showed that the related biomarkers in aqueous humor,such as cell-free DNA,trefoil factor family,survivin and neuron-specific enolase,probably played the important roles in the early diagnosis,prediction of tumor invasiveness,observation of therapeutic effects,and evaluation of prognosis in children with RB may become a powerful tool for the diagnosis and efficacy observation of RB.