眼外期及远处播散期视网膜母细胞瘤133例

Clinical Analysis of 133 Cases of Extraocular Stage and Metastasis Stage Metastatic Retinoblastoma

目的总结晚期视网膜母细胞瘤（Rb）患儿的临床特点和疗效。方法收集2005年9月-2010年5月本科收治133例（162只眼;男78例,女55例）眼外期（101例）及远处播散期（32例）Rb患儿综合诊疗资料,并进行回顾性分析。133例患儿中位年龄2.04岁（0.33~12.66岁）。首发眼别：右眼48例（眼外期36例,远处播散期12例）,左眼56例（眼外期46例,远处播散期10例）,双眼29例。结果眼外期及远处播散期患儿初诊症状以黄白色反光为主要临床表现,占69.92%（93/133例）,其次为流泪、红肿、畏光及眼球突出（10.52%）,斜视（9.77%）,视力下降、失明、白内障（6.77%）。误诊1.51%,术后复发1.51%。133例中男性患儿就诊率为58%（78/133例）,略高于女性患儿;存在Rb家族史者占5.26%（7/133例）;98.49%的患儿（131/133例）神经元特异性烯醇化酶（NSE）增高,最大值370.00μg.L-1;眼外期患儿NSE水平为（34.16±19.63）μg.L-1,远处播散期患儿NSE水平为（91.83±96.55）μg.L-1。放弃治疗或失访14例（远处播散期9例,眼外期5例）,获随访119例,随访中位时间27个月,生存率82.35%（98/119例）。远处播散期存活率为26.08%（6/23例）,眼外期为95.83%（92/96例）。结论晚期Rb患儿一旦出现远处器官及组织侵犯,病死率较高。但眼外期患儿经规律治疗后生存率较高,应重视Rb的早期、综合诊疗。

Objective To analyze the clinical characteristics and curative effect of terminal retinoblastoma（Rb）.Methods The clinical document of 133 cases（162 eyes,78 male,55 female） with extraocular and metastasis stage of Rb confirmed in Department of Pediatrics of Tongren Hospital from Sep.2005 to May 2010 were retrospectively analyzed.The average age of 133 cases was 2.04 years old（range 0.33-12.66 years old）;primary eye types：the right eyes diagnosed primarily were 48 cases（extraocular 36 cases,metastasis stage 12 cases）,left eyes diagnosed primarily were 56 cases（extraocular 46 cases,metastasis stage 10 cases）,and double eyes diagnosed primarily were 29 cases.Results Leucocoria was the most common manifestation of terminal Rb with the primary diagnosis rate was 69.92%（93/133 cases） based on this symptom;secondly,lacrimation,flare,photophobia,exophthalmos（10.52%） and side-glance（9.77%）,weak-eyed,blindness,cataract（6.77%）,misdiagnose（1.51%）,recur after operation（1.51%）.The hospitalized rate of male [58%（78/133 cases）]was more than that of female.Seven cases（5.26%） showed the positive family history in all of cases.In all the 133 cases,131 cases（98.49%） had an increase in neurone specific enolase（NSE）,the max was 370.00 μg·L-1.The total survival rate was 82.35%（98/119 cases）,14 cases（in the metastasis stage 9 cases,extraocular 5 cases） given up treatment and lost followed-up.One hundred and nineteen cases were followed up：the median follow-up visit was 27 months,the survival rate was 82.35%（98/119 cases）.Moreover,the survival rate of Rb in the metastasis stage was 26.08%（6/23 cases）;the survival rate of Rb in the extraocluar stage was 95.83%（92/96 cases）.Conclusions The mortality of terminal Rb is very high,especially in metastasis stage.Therefore,it is very important to diagnose early and give an overall treatment.