摘要眼内淋巴瘤（IOL）是一种罕见的淋巴细胞恶性肿瘤，组织细胞学病理检查是诊断IOL的金标准。但由于常用的玻璃体样本中淋巴瘤细胞较少且易变性，对标本的处理及病理学专家要求较高，容易出现假阴性的结果，延误疾病的及时诊断及治疗。因此，许多辅助诊断IOL的实验室检查方法应运而生，包括流式细胞术、细胞因子白细胞介素（IL）-10和IL-6水平测定以及聚合酶链反应扩增技术等。近来基因突变分析技术也开始应用于玻璃体视网膜淋巴瘤（VRL）的诊断，基因突变技术可能成为早期诊断IOL的方法；宏基因组深度测序技术也有助于VRL的诊断及治疗。未来有望继续推动在分子水平对IOL疾病表型的认识，并发现新的靶向目标进行治疗、监测对治疗的反应及疾病复发情况，为患者个性化治疗方法提供重要依据。

abstractsIntraocular lymphoma (IOL) is a rare lymphocytic malignancy. The gold standard for the definite diagnosis remains histopathologic examination of the ocular specimen. But cytologic confirmation of malignant lymphoma cells in vitreous or chorioretinal specimens is challenging and dependending on highly skilled cytopathologist, due to the sparse cellularity and specimen degeneration. Consequently, false-negative rates arecommon, which delays diagnosis and treatment seriously. Because of the limited diagnostic capacity of cytology, other adjunct diagnostic tools have been developed. Additional procedures that may support IOL diagnosis include flow cytometry, immunocytochemistry, cytokines study with identification of interleukin (IL)-10 and IL-6 level, and polymerase chain reaction amplification. And more recently, new techniques of mutational analysis have been validated for the diagnosis of vitreoretinal lymphoma (VRL) and may represent a helpful diagnostic tool for the detection of early cases. Metagenomic deep sequencing technology may provide an important basis for IOL diagnosis and personalized treatment. In the future, it is expected to deepen the understanding of IOL disease phenotypes at the molecular level, discover new target therapies, monitor response to treatment, and detect intraocular recurrences. These may offer insights into how we might create a tailored therapeutic approach for each patient's VRL in the future.