原发性玻璃体视网膜淋巴瘤(primary vitreoretinal lymphoma, PVRL)作为原发性中枢神经系统淋巴瘤(primary central nervous system lymphoma，PCNSL)的一个亚型，是一种罕见的致命性眼部恶性肿瘤。多数PVRL会伪装成慢性后葡萄膜炎，这使得临床诊断具有挑战性。玻璃体细胞、视网膜下液和影像学检查对临床诊断至关重要。而对恶性细胞的细胞学检查与组织病理学诊断是PVRL诊断的金标准。此外，免疫球蛋白重链(immunoglobulin heavy chain, IgH)或T细胞受体(Tcell receptor, TCR)基因重排的分子生物学检测、细胞标志物的免疫表型检测、以及细胞因子检测如IL-10的表达升高均可作为辅助诊断工具。目前PVRL的治疗主要包括局部放射及玻璃体腔内注射化疗药物(甲氨蝶呤和利妥昔单抗)，根据眼外组织是否受累决定是否联合全身化疗。对伴随PCNSL的患者，在全身大剂量甲氨蝶呤联合利妥昔单抗治疗的基础上，考虑联合局部治疗、全脑放疗和/或自体干细胞移植。尽管PVRL对初始治疗反应良好，但因其复发率高，常出现CNS受累，使PVRL的生存期预后较差。因此建立一个包含眼科医师、眼科病理学家、神经肿瘤学家以及血液肿瘤学家在内的专业团队来优化患者的治疗方案显得尤为重要。

Abstract: Primary vitreoretinal lymphoma (PVRL), as a subset of primary central nervous system lymphoma (PCNSL), is a rare and fatal ocular malignancy. Most PVRL masquerades as chronic posterior uveitis, which makes the clinical diagnosis challenging. Vitreous cells, subretinal lesions and imaging techniques are essential for clinical diagnosis. Importantly, cytopathology/histopathology identification of malignant cells is the gold standard for the diagnosis of PVRL. In addition, molecular detection of immunoglobulin heavy chain (IgH) or T cell receptor (TCR) gene rearrangements, immunophenotyping for cell markers, and cytokine analysis of interleukine-10 elevation are often used as adjunct procedures. Current management of PVRL involves local radiation, intravitreal chemotherapy (methotrexate and rituximab), with or without systemic chemotherapy depending on the involvement of non-ocular tissues. In cases with concomitant PCNSL, systemic high-dose methotrexate/rituximab based therapy in conjunction with local therapy, whole brain radiotherapy and/or autologous stem cell transplantation is considered. Although PVRL normally responds well to initial treatment, high rates of relapse and CNS involvement usually lead to poor prognosis and limited survival. A professional team of medical experts in ophthalmologists, ocular pathologists, neuro-oncologists and hemato-oncologists is essential for optimizing patient management.

Abstract: Primary vitreoretinal lymphoma (PVRL), as a subset of primary central nervous system lymphoma (PCNSL), is a rare and fatal ocular malignancy. Most PVRL masquerades as chronic posterior uveitis, which makes the clinical diagnosis challenging. Vitreous cells, subretinal lesions and imaging techniques are essential for clinical diagnosis. Importantly, cytopathology/histopathology identification of malignant cells is the gold standard for the diagnosis of PVRL. In addition, molecular detection of immunoglobulin heavy chain (IgH) or T cell receptor (TCR) gene rearrangements, immunophenotyping for cell markers, and cytokine analysis of interleukine-10 elevation are often used as adjunct procedures. Current management of PVRL involves local radiation, intravitreal chemotherapy (methotrexate and rituximab), with or without systemic chemotherapy depending on the involvement of non-ocular tissues. In cases with concomitant PCNSL, systemic high-dose methotrexate/rituximab based therapy in conjunction with local therapy, whole brain radiotherapy and/or autologous stem cell transplantation is considered. Although PVRL normally responds well to initial treatment, high rates of relapse and CNS involvement usually lead to poor prognosis and limited survival. A professional team of medical experts in ophthalmologists, ocular pathologists, neuro-oncologists and hemato-oncologists is essential for optimizing patient management.