Purpose To compare the diagnostic utility of metagenomic deep sequencing (MDS) to cytology, flow cytometry and gene rearrangement by PCR in ocular samples of patients with suspected vitreoretinal lymphoma (VRL). Methods Patients with suspected VRL underwent ocular sampling of one or both eyes at the Emory Eye Center from September 2017 to June 2022. Ocular samples were evaluated with MDS and conventional diagnostics. MDS was performed at the Ralph and Sophie Heintz Laboratory at the F.I. Proctor Foundation. Relevant demographic and clinical data were retrospectively collected from medical records. Patients were diagnosed with VRL based on clinical assessment and conventional diagnostic testing. Results This study included 13 patients with suspected VRL who underwent diagnostic vitrectomy, including 1 patient who had an additional subretinal biopsy. Six patients (46.2%) were diagnosed with VRL. Among patients diagnosed with VRL, MDS detected pathogenic mutations in 5 out of 6 patients (83.3%) while cytology was positive for VRL in 4 out of 6 patients (66.7%), flow cytometry in 4 out of 4 patients (100.0%) and PCR in 4 out of 4 patients (100.0%). MDS detected mutations in MYD88 in 2 out of 6 patients diagnosed with VRL. In 7 patients (53.8%) not diagnosed with VRL, MDS detected pathogenic lymphoma mutations in 2 patients (28.6%). Discussion MDS detected pathogenic mutations in five out of six patients diagnosed with VRL, including in two patients with negative cytology, demonstrating its potential to improve diagnostic rates of VRL as an adjunctive test. No data are available.

中文翻译：

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深度测序作为疑似原发性玻璃体视网膜淋巴瘤患者的诊断工具


目的 比较宏基因组深度测序 （MDS） 与细胞学、流式细胞术和基因重排在疑似玻璃体视网膜淋巴瘤 （VRL） 患者眼部样本中的细胞学、流式细胞术和基因重排的诊断效用。方法 疑似 VRL 患者于 2017 年 9 月至 2022 年 6 月在 Emory 眼科中心接受了单眼或双眼眼取样。使用 MDS 和常规诊断进行评估眼部样本。MDS 在 F.I. Proctor 基金会的 Ralph 和 Sophie Heintz 实验室进行。从病历中回顾性收集相关的人口统计学和临床数据。患者根据临床评估和常规诊断测试被诊断为 VRL。结果 本研究包括 13 例接受诊断性玻璃体切除术的疑似 VRL 患者，其中 1 例患者额外接受了视网膜下活检。6 例患者 （46.2%） 被诊断为 VRL。在诊断为 VRL 的患者中，MDS 在 6 名患者中有 5 名 （83.3%） 检测到致病性突变，而 6 名患者中有 4 名 （66.7%） 细胞学阳性，4 名患者中有 4 名 （100.0%） 流式细胞术阳性，4 名患者中有 4 名 （100.0%） 细胞学阳性。MDS 在 6 名诊断为 VRL 的患者中有 2 名检测到 MYD88 突变。在 7 例未诊断为 VRL 的患者中 （53.8%） 中，MDS 检测到 2 例患者 （28.6%） 的致病性淋巴瘤突变。讨论 MDS 在 6 名诊断为 VRL 的患者中有 5 名检测到致病性突变，其中包括 2 名细胞学阴性患者，证明其作为辅助检查有可能提高 VRL 的诊断率。没有可用的数据。