目的:研究视网膜母细胞瘤(pseudoRB)病变的不同类型和频率,这些病变由于担心可能是视网膜母细胞瘤而出现在视网膜母细胞瘤中心。
方法:回顾性图表回顾了2009年1月至2018年12月在伦敦皇家医院偶尔就诊的341例患者。
结果:220例患者(65%)被证实患有视网膜母细胞瘤,而121(35%)有假RB。共有23例鉴别诊断。前3位的鉴别诊断是Coats病(34%),持续性胎儿血管系统(PFV)(17%)和视网膜和视网膜色素上皮的联合错构瘤(CHR-RPE)(13%)。伪RB在演示时随年龄的不同而不同。1岁以下(n=42),最可能的伪RB条件是PFV(36%),Coats\'疾病(17%)和CHR-RPE(12%)。这些条件也是1至2岁(n=21)之间最常见的模拟条件,但Coats\'疾病在这个年龄组中最常见(52%),其次是CHR-RPE(19%)和PFV(14%)。在2至5岁之间(n=32),Coats疾病仍然是最常见的(44%)假RB病变,其次是CHR-RPE(13%),或PFV,视网膜星形细胞错构瘤(RAH),家族性渗出性玻璃体视网膜病变(FEVR)(均为6.3%)。5岁以上(n=26),伪RB最有可能是Coats病(35%),RAH(12%),葡萄膜炎,CHR-RPE,FEVR(均为7.7%)。
结论:35%的可疑视网膜母细胞瘤病例是假RB疾病。总的来说,Coats疾病是最常见的假RB疾病,其次是PFV。错构瘤(CHR-RPE&RAH)在这一群体中更为普遍,反映转诊眼科医生诊断准确性的提高。
OBJECTIVE: To study the different types and frequency of pseudoretinoblastoma (pseudoRB) lesions who present to a retinoblastoma centre due to concern that the condition may be retinoblastoma.
METHODS: A retrospective chart
review of 341 patients presenting sporadically to the Royal London Hospital from January 2009 to December 2018.
RESULTS: 220 patients (65%) were confirmed to have retinoblastoma, while 121 (35%) had pseudoRB. There were 23 differential diagnoses in total. The top 3 differential diagnoses were Coats\' disease (34%), Persistent Foetal Vasculature (PFV) (17%) and Combined Hamartoma of Retina and Retinal Pigment Epithelium (CHR-RPE) (13%). PseudoRBs differed with age at presentation. Under the age of 1 (n = 42), the most likely pseudoRB conditions were PFV (36%), Coats\' disease (17%) and CHR-RPE (12%). These conditions were also the most common simulating conditions between the ages of 1 and 2 (n = 21), but Coats\' disease was the most common in this age group (52%), followed by CHR-RPE (19%) and PFV (14%). Between the ages of 2 and 5 (n = 32), Coats\' disease remained the most common (44%) pseudoRB lesion followed by CHR-RPE (13%), or PFV, Retinal Astrocytic Hamartoma (RAH), familial exudative vitreoretinopathy (FEVR) (all 6.3%). Over the age of 5 (n = 26), pseudoRBs were most likely to be Coats\' disease (35%), RAH (12%), Uveitis, CHR-RPE, FEVR (all 7.7%).
CONCLUSIONS: 35% of suspected retinoblastoma cases are pseudoRB conditions. Overall, Coats\' disease is the most common pseudoRB condition, followed by PFV. Hamartomas (CHR-RPE & RAH) are more prevalent in this cohort, reflecting improvements in diagnostic accuracy from referring ophthalmologists.