双眼异时性视网膜母细胞瘤1例  

Metachronous bilateral retinoblastoma:a case report

作　　者：热依扎·孟江 杨洁[1] 文旭洋 范佳燕[1] Mengjiang Reyizha;Yang Jie;Wen Xuyang;Fan Jiayan(Department of Ophthalmology,Shanghai Ninth People′s Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology,Shanghai 200011,China)

机构地区：[1]上海交通大学医学院附属第九人民医院眼科,上海市眼眶病眼肿瘤重点实验室,上海200011

出　　处：《中华眼科杂志》2024年第9期776-778,共3页Chinese Journal of Ophthalmology

基　　金：国家自然科学基金优秀青年科学基金项目(82322017);上海市“科技创新行动计划”启明星培育(扬帆专项)(23YF1422500)。

摘　　要：患儿男性,2岁,家属发现患儿右眼瞳孔区白色反光6 d,就诊于上海交通大学医学院附属第九人民医院眼科。完善眼部及全身检查后诊断为右眼视网膜母细胞瘤(E期,cT2bN0M0),行右眼眼球摘除术,病理分期pT3cN0M0,术后予以VEC方案全身静脉化疗。基因检测发现该患儿存在RB1基因胚系突变:c.874(exon9)delT(p.Tyr292fsTer9),密切随访眼底及全身情况。术后3个月眼底检查发现左眼黄白色占位病灶,诊断为双眼视网膜母细胞瘤(右眼E期,左眼C期)。根据患儿ICRB和pTNM分期,予以6次全身静脉化疗,3次左眼冷冻治疗。目前随访4年,患儿左眼瘤体稳定,右眼无新发肿瘤。该患儿首诊为单侧视网膜母细胞瘤,治疗期间对侧眼发病,为1例双眼异时性视网膜母细胞瘤。The patient is a 2-year-old male.The family consulted the Department of Ophthalmology,Shanghai Ninth People′s Hospital,after noticing a white reflection in the pupil area of the child′s right eye for 6 days.Following a thorough ocular and systemic examination,the patient was diagnosed with retinoblastoma(Group E,cT2bN0M0)of the right eye.The right eye was enucleated and classified as pathological stage pT3cN0M0.Postoperatively,systemic intravenous chemotherapy with the VEC regimen was administered.Genetic testing revealed a germline mutation in the RB1 gene:c.874(exon9)delT(p.Tyr292fsTer9),necessitating close monitoring of the socket during follow-up visits.Three months after the operation,fundus examination revealed yellow-white lesions in the left eye,and bilateral retinoblastoma was diagnosed(Group E in the right eye,Group C in the left eye).Based on the ICRB and pTNM stages,the patient underwent six rounds of systemic intravenous chemotherapy and three rounds of cryotherapy in the left eye.No recurrence was detected with a 4-year follow-up.The patient was initially diagnosed with unilateral retinoblastoma,but later developed the disease in the contralateral eye during treatment,which was a case of metachronous bilateral retinoblastoma.

关 键 词：视网膜肿瘤 视网膜母细胞瘤 视网膜母细胞瘤蛋白质 基因检测 

分 类 号：R739.7[医药卫生—肿瘤]