Eye and Vision Health, Flinders University College of Medicine and Public Health, Adelaide, South Australia, Australia.
Clin Exp Ophthalmol. 2018 Nov;46(8):945-954. doi: 10.1111/ceo.13304. Epub 2018 May 10.
Vitreoretinal lymphoma, which most commonly is diffuse large B-cell non-Hodgkin in type, is a rare cancer with high morbidity and high mortality. Making a tissue diagnosis of vitreoretinal lymphoma is a major challenge for clinicians due to biological and technical factors. Yet, the delay in start of treatment may have vision- and life-threatening consequences, and there is considerable interest in the application of molecular assays to improve the accuracy of the diagnostic process: detection of a clonal immunoglobulin heavy-chain rearrangements in lymphoma cells by polymerase chain reaction; measurement of vitreous or aqueous interleukin-10 protein levels in ocular fluids; and identification of mutations in the myeloid differentiation primary response gene 88 in tumour cells. In this article, we review the historical development and current application of each of these molecular methods. We also discuss future opportunities for the molecular diagnosis of vitreoretinal lymphoma through next-generation sequencing technologies.
眼内视网膜淋巴瘤，最常见的类型是弥漫性大 B 细胞非霍奇金淋巴瘤，是一种发病率和死亡率都很高的罕见癌症。由于生物学和技术因素，对眼内视网膜淋巴瘤进行组织诊断对临床医生来说是一项重大挑战。然而，治疗的延迟可能会对视力和生命造成威胁，因此人们非常关注应用分子检测来提高诊断过程的准确性：通过聚合酶链反应检测淋巴瘤细胞中克隆性免疫球蛋白重链重排；测量眼内液或房水中白细胞介素-10 蛋白水平；以及鉴定肿瘤细胞中髓样分化初级反应基因 88 的突变。本文综述了这些分子方法的历史发展和当前应用，并讨论了通过下一代测序技术进行眼内视网膜淋巴瘤分子诊断的未来机会。
