原发性玻璃体视网膜淋巴瘤 (PVRL) 代表眼内淋巴瘤的一种亚型，属于眼部恶性淋巴瘤的一个亚组。 PVRL 被认为是 CNS（中枢神经系统）(PCNSL) 原发性弥漫大细胞淋巴瘤 (DLBCL) 的一种特殊形式，原发性或继发于 PCNSL。根据DLBCL的起源细胞（COO）分类，PVRL很大程度上属于活化B细胞（ABC）型DLBCL。根据最近建立的 DLBCL 遗传生物学分类，PCNSL 以及 PVRL 属于一组 MYD88/CD79B 突变 (MCD) 或簇 5 亚型的 DLBCL，该亚型通常表现出结外表现以及 MYD88 和 CD79A 突变如 CDKN2A 缺失。PVRL 诊断通常很复杂，因为它代表了一种典型的伪装综合症。由于材料通常有限，并且通常含有大量反应性淋巴细胞和/或细胞的退行性变化，因此诊断测试的结果难以解释。经典的诊断测试包括玻璃体抽吸细胞学、免疫细胞化学和克隆分析。对玻璃体视网膜淋巴瘤 (VRL) 遗传改变谱的新见解证实了与 PCNSL 的密切关系，并可以显着改善病理诊断。在细胞学证据不足或缺乏克隆性检测的情况下，基于下一代测序面板的诊断可以用几乎 100% 的患者的少量 DNA 进行 VRL 诊断确认。 PVRL 以及 PCNSL 或脑外 DLBCL 后的继发性玻璃体视网膜淋巴瘤在 PCNSL 或 MCD/cluster 5 型 DLBCL 的特征性突变基因中具有较高的突变频率。支持诊断，还可以对玻璃体上清液中的无细胞 DNA 进行突变检测。© 2023。作者获得 Springer Medizin Verlag GmbH（ein Teil von Springer Nature）的独家许可。

Primary vitreoretinal lymphoma (PVRL) represents a subtype of intraocular lymphomas, which are a subgroup of malignant lymphomas of the eye. PVRL is considered a special form of primary diffuse large cell lymphoma (DLBCL) of the CNS (central nervous system) (PCNSL) and arises primary or secondary to PCNSL. According to the cell of origin (COO) classification of DLBCL, PVRL largely belongs to the activated B‑cell (ABC) type of DLBCL. Based on a recently established genetic-biological classification of DLBCL, PCNSL and thus also PVRL belong to a group of DLBCL of the MYD88/CD79B-mutated (MCD) or cluster 5 subtype, which often shows extranodal manifestations and MYD88 and CD79A mutations as well as CDKN2A deletions.PVRL diagnostics is often complicated as it represents a classic masquerade syndrome. Due to the usually limited material with often large numbers of reactive lymphocytes and/or degenerative changes in the cells, the results of diagnostic tests are difficult to interpret. Classic diagnostic tests include cytology on vitreous aspirates, immunocytochemistry, and clonality analysis.New insights into the spectrum of genetic alterations of vitreoretinal lymphomas (VRL) confirm the close relationship to PCNSL and could significantly improve pathological diagnosis. Next-generation sequencing panel-based diagnostics allow VRL diagnosis confirmation with little DNA in almost 100% of patients in cases with insufficient cytological evidence or lack of clonality detection. PVRL, as well as secondary vitreoretinal lymphomas after PCNSL or extracerebral DLBCL, have high mutation frequencies in characteristically mutated genes in PCNSL or MCD/cluster 5 type DLBCL. Supporting diagnostics, mutation detection can also be performed on cell-free DNA from the vitreous supernatant.© 2023. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.