视网膜母细胞瘤临床误诊的原因及病理特点

Clinicopathological characteristics of misdiagnosed retinoblastoma

目的:分析各种病因摘除眼球的患儿中视网膜母细胞瘤(retinoblastoma,RB)的误诊率,并总结其临床和病理特点。方法:回顾性分析2003年以来在中山眼科中心因临床诊断为RB并接受眼球摘除的患者563例(577眼),比较术前临床诊断和术后病理诊断,从中筛选出误诊病例,分析这些病例的临床和病理特点,包括患者年龄、性别、治疗过程、临床影像学、肿瘤病理分期、病理诊断以及分化程度。结果:共发现误诊病例22例(22眼),误诊率3.91%,所有误诊病例均为单眼摘除患者。常见的临床误诊类型为:与Coats病相混淆12例(12眼),与眼内炎症反应混淆5例(5眼),以及与眼内其他肿瘤混淆5例(5眼)。所有患者中,>4岁者55例,其中误诊12例,误诊率21.82%。结论:与RB相关的临床误诊并不罕见,其中最常见的误诊病因是Coats病,>4岁患者是误诊的主要人群。

Objective:To investigate the misdiagnosis rate in enucleated eyes for retinoblastoma(RB),analyze the clinicopathological features and summarize differential diagnosis.Methods:Retrospective analysis was performed on 563 cases(577 eye)undergoing eyeball enucleation in Zhongshan Ophthalmic Center Sun Yat-sen University since 2003.Misdiagnosed cases were screened out by comparing the preoperative clinical diagnosis and postoperative pathological diagnosis.The clinical and pathological features of those misdiagnosed cases were summarized,including age,gender,therapeutic process,imagological examination,pathological stage and pathological diagnosis.Results:Twenty-two cases had been misdiagnosed,which account for 3.91%of 563 enucleated eyeball cases.All of misdiagnosed cases had underwent monocular eyeball enucleation.Diseases that were easily misdiagnosed with RB were Coats disease(12/22),endophthalmitis(5/22)and other intraocular tumor (5/22). Among all patients, 55 patients were older than 4 years old, of which 12 cases were misdiagnosed, with a misdiagnosis rate of 21.82%. Conclusion: It is not unusual for clinical misdiagnosis of RB. Coats disease is the most frequent cause of RB misdiagnosis. Misdiagnosis rates is higher in patients over 4 years old.