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 PCR 基因重排对疑似玻璃体视网膜淋巴瘤 (VRL) 患者眼部样本的诊断效用。方法 2017 年 9 月至 2022 年 6 月，疑似 VRL 患者在埃默里眼科中心接受了一只或双眼的眼部取样。使用 MDS 和常规诊断对眼部样本进行评估。 MDS 在 FI Proctor 基金会的 Ralph 和 Sophie Heintz 实验室进行。从医疗记录中回顾性收集相关人口统计和临床数据。根据临床评估和常规诊断测试，患者被诊断为 VRL。结果 本研究纳入了 13 名疑似 VRL 患者，他们接受了诊断性玻璃体切除术，其中 1 名患者接受了额外的视网膜下活检。 6 名患者（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，而细胞学在 6 名患者中有 4 名 (66.7%) 呈 VRL 阳性，流式细胞术在 4 名患者中有 4 名 (100.0%) 呈 VRL 阳性， 4 名患者中有 4 名进行了 PCR (100.0%)。 MDS 在 6 名诊断为 VRL 的患者中检测到 2 名 MYD88 突变。在 7 名未诊断为 VRL 的患者 (53.8%) 中，MDS 检测到 2 名患者 (28.6%) 存在致病性淋巴瘤突变。讨论 MDS 在诊断为 VRL 的 6 名患者中检测到了 5 名致病突变，其中包括两名细胞学阴性的患者，证明了其作为辅助测试提高 VRL 诊断率的潜力。无可用数据。