目的：研究基因重排检测技术联合玻璃体液中白介素-10(IL-10)、白介素-6(IL-6)细胞因子检测对原发性眼内淋巴瘤(PIOL)的诊断价值。

方法：研究对象为本院2015-01/2019-12收治的拟诊断为PIOL患者27例的临床资料，经诊断性玻璃体切割术病理检查确诊PIOL 患者21例，葡萄膜炎6例； 回顾性分析其基因重排检测结果及玻璃体液中IL-10、IL-6水平，绘制受试者工作特征(ROC)曲线分析基因重排检测技术、玻璃体液中IL-10、IL-6水平及两者联合对PIOL的诊断价值。

结果：纳入的21例PIOL患者中，15例IhH FR2单克隆性重排序列，阳性率为71%(15/21)； 4例检出TCRG克隆性基因重排序列； 经ROC曲线分析显示基因重排检测技术诊断PIOL的曲线下面积值(AUC)为0.857，敏感性、特异性分别为71.43%、100.00%； PIOL患者玻璃体液中IL-10及IL-10/IL-6水平均显著高于葡萄膜炎患者，但两种病变患者IL-6水平无差异(P>0.05)； 经ROC曲线分析显示IL-10诊断PIOL的AUC值最高，以170.90pg/mL为IL-10的cut-off，其诊断PIOL的敏感性、特异性分别为66.67%、100.00%； 而以1.95为IL-10/IL-6比值的cut-off，其诊断PIOL的敏感性为52.40%、特异性为100.00%； 基因重排检测技术联合玻璃体液中IL-10、IL-10/IL-6水平检测诊断PIOL的AUC为0.893，敏感性、特异性分别为95.24%、83.33%。

结论：单一基因重排检测技术诊断PIOL敏感性欠佳，联合玻璃体液中IL-10、IL-6水平检测可获得更佳的诊断敏感性，且特异性良好。

METHODS: A total of 27 patients with suspected PIOL who were admitted to the hospital between January 2015 and December 2019 were enrolled in this study according to the inclusion and exclusion criteria. Totally 21 cases of PIOL and 6 cases of uveitis were diagnosed by pathological examination of diagnostic vitrectomy. Results of gene rearrangement and cytokine levels were retrospectively analyzed. Receiver operating characteristic(ROC)curves were used to analyze the diagnostic value of gene rearrangement, cytokines detection and the combination of the two in PIOL.

RESULTS: Of the 21 patients with PIOL, 15 had IhH FR2 monoclonal rearrangement, with a positive rate of 71%(15/21), and 4 were detected with TCRG clonal gene rearrangement. ROC curve analysis showed that the area under the curve(AUC)of gene rearrangement for diagnosis of PIOL was 0.857. Its sensitivity and specificity were 71.43% and 100.00%. Patients with PIOL had significantly higher vitreous humor IL-10 and IL-10/IL-6 levels than those with uveitis, but no statistically significant difference was found in the IL-6 level between the two groups(P>0.05). ROC curve analysis showed that the AUC of IL-10 was the highest for diagnosis of PIOL. With 170.90pg/mL as the cut-off value, its sensitivity and specificity of IL-10 in diagnosing PIOL were 66.67% and 100.00%, respectively. With 1.95 as the cut-off value, the sensitivity and specificity of IL-10/IL-6 ratio in diagnosing PIOL were 52.40% and 100.00%. The AUC, sensitivity and specificity of gene rearrangement combined with cytokines detection in diagnosing PIOL were 0.893, 95.24% and 83.33%, respectively.

CONCLUSION: The sensitivity of gene rearrangement alone is poor in diagnosing PIOL. Combined use of cytokines detection can improve the diagnostic sensitivity and specificity.