筛查发现无症状视网膜母细胞瘤的临床特征、治疗及预后分析

目的观察分析筛查发现的无症状视网膜母细胞瘤(RB)患儿的临床特征、治疗及预后。方法回顾性系列病例研究。2006年1月至2019年3月于复旦大学附属眼耳鼻喉科医院眼科确诊的无症状RB患儿8例11只眼纳入研究。其中,男性6例,女性2例;确诊年龄2 d~20个月,中位数确诊年龄6个月;单眼5例,双眼3例。国际眼内RB分期,A期、B期、C期分别为4、3、4只眼。有RB家族史1例。行Rb1基因检测4例。8例患儿的16名父母及3名兄弟姐妹均行常规眼部检查及超广角眼底照相检查。全身静脉化学药物治疗(IVC)采用卡铂、长春新碱和依托泊苷联合方案;眼动脉灌注化学药物治疗(IAC)采用马法兰和卡铂;眼局部治疗包括冷冻和经瞳孔温热疗法(TTT)。平均随访时间47.25个月。结果8例患儿均无任何眼部症状。行IVC 5~6次者6例,IAC 3次者1例,仅眼局部治疗者1例。11只眼中,行眼局部冷冻治疗9只眼,TTT治疗8只眼。随访中发现新瘤体2例,发现新瘤体时间为化疗结束后平均6.3个月。末次随访时,瘤体消退11只眼,稳定11只眼;无眼球摘除者,保眼率100%(8/8)。最佳矫正视力0.1、1.0者分别为3、5只眼;未查及者3只眼。行Rb1基因检测的4例患儿中,未检测到明确致病变异3例,检测到Rb1基因1c.35_69del(p.T12fs)杂合突变1例。16名父母中,双眼眼球痨1名,为双眼RB患儿的母亲。3名兄弟姐妹中,双眼RB 1例,为双眼RB患儿的哥哥。结论眼部筛查有助于发现早期RB,经IVC、IAC等全身或局部化学药物治疗及冷冻、TTT等眼局部治疗后保眼率高,长期视力预后较好。

Clinical features,treatment and prognosis analysis of the asymptomatic patients with retinoblastoma

Objective To analyze the clinical features,treatment and prognosis of asymptomatic patients with retinoblastoma.Methods A retrospective series of case study.Eight asymptomatic patients(11 eyes)with the diagnosis of retinoblastoma by screening enrolled in Department of Ophthalmology of The EyeENT Hospital of Fudan University from January 2006 to March 2019 were included.There were 6 males and 3 females ranging from 2 days to 20 months,with a median age of 6 months.Five patients were unilateral retinoblastoma while 3 patients were bilateral.Based on the International Classification of Intraocular Retinoblastoma,4 eyes were stage A,3 eyes were stage B and 4 eyes were stage C.One patient had family history.Four patients were evaluated the Rb1 mutation.Routine ophthalmic examinations and ultra-wide field fundus imaging were performed on the 16 parents and 3 siblings of the 8 patients.Systemic intravenous chemotherapy was performed using the Carboplatin,Vincristine,Etoposide protocol,intra-arterial chemotherapy using Carboplatin and Melphalan,and local treatment involved cryotherapy and transpupillary thermotherapy.The mean follow-up time is 47.25 months.Results None of the 8 children had any ocular symptoms.Six patients received intravenous chemotherapy(5-6 times),1 patient received intra-arterial chemotherapy(3 times),and 1 patient just received local treatment.Among the 11 eyes,9 eyes were treated with local cryotherapy and 8 eyes were treated with transpupillary thermotherapy.During the follow-up period,2 patients had new tumor,and the average time was 6.3 months after the last chemotherapy.At the last follow-up,the tumor disappeared in 11 eyes,remained stable in 11 eyes.The eye protection rate was 100%(8/8)for patients without eyeball excision.The best corrected visual acuity was 0.1 for 3 eyes and 1.0 for 5 eyes.Three eyes were not found.One heterozygous mutation of Rb1 gene1c.35_69del(p.T12fs)]was identified in 1 patient,and the other 3 patients were not detected.One had bilateral bulbar tuberculosis of the 16 parents,1 had bilateral RB of the 3 siblings.They were the mother and brother of a child with bilateral RB.Conclusions Fundus screening is helpful for the detection of early RB.The eye protection rate is high and the long-term vision prognosis is good after systemic or topical chemical drugs(IVC,IAC)and ocular topical treatment(cryopreservation and transpupillary thermotherapy).