Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, University of Bern, 3012 Bern, Switzerland.
Department of Medicine A, Haematology, Oncology, and Pneumology, University Hospital Münster, 48149 Münster, Germany.
Curr Oncol. 2022 Jan 31;29(2):766-776. doi: 10.3390/curroncol29020065.
Intraocular lymphoma (IOL) presents a real challenge in daily diagnostics. Cyto- and/or histopathology of vitreous body represent the diagnostic cornerstones. Yet, false negative results remain common. Therefore, we analyzed the diagnostic significance of flow cytometry (FC) within the workup algorithm of IOL and compared its sensitivity with the results obtained from routine cytopathology and molecular genetics; Methods: Seven patients undergoing vitrectomy due to suspected IOL were investigated by FC and parallel cytopathology and, if available, digital droplet PCR (ddPCR) for L265P; Results: Four out of seven patients were finally diagnosed with IOL. Among the IOL patients, cytopathology confirmed the presence of lymphoma cells in only two cases. In contrast, FC was positive for IOL in all four cases, and FC additionally confirmed the lack of IOL in the remaining patients. In IOL patients diagnosed by FC and with available ddPCR, the diagnosis of IOL was confirmed by the presence of the L265P mutation in all three patients; Conclusions: The combination with FC was superior to cytopathology alone in the diagnostic work-up of IOL, and it showed an excellent correlation with ddPCR results. A comprehensive diagnostic panel consisting of cytopathology, FC and molecular genetics should be considered for the work-up of suspected IOL.
眼内淋巴瘤（IOL）在日常诊断中带来了真正的挑战。玻璃体的细胞和/或组织病理学是诊断的基石。然而，假阴性结果仍然很常见。因此，我们分析了流式细胞术（FC）在 IOL 检查算法中的诊断意义，并将其与常规细胞学和分子遗传学的结果进行了比较；方法：对 7 例因疑似 IOL 而行玻璃体切除术的患者进行了 FC 检查，并进行了平行细胞学检查，如果可能的话，还进行了数字液滴 PCR（ddPCR）检测 L265P；结果：最终诊断为 IOL 的患者有 4 例。在 IOL 患者中，细胞学检查仅在 2 例中证实存在淋巴瘤细胞。相比之下，FC 在所有 4 例 IOL 患者中均为阳性，并且 FC 还在其余患者中证实不存在 IOL。在通过 FC 诊断为 IOL 的患者中，ddPCR 结果显示，所有 3 例患者均存在 L265P 突变，从而确诊为 IOL；结论：与单纯细胞学检查相比，FC 的联合应用在 IOL 的诊断中更具优势，并且与 ddPCR 结果具有极好的相关性。对于疑似 IOL 的患者，应考虑采用包括细胞学检查、FC 和分子遗传学在内的综合诊断方案。
