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本文引用的文献

1
Detection of structural DNA variation from next generation sequencing data: a review of informatic approaches.从下一代测序数据中检测结构DNA变异：信息学方法综述
Cancer Genet. 2013 Dec;206(12):432-40. doi: 10.1016/j.cancergen.2013.11.002. Epub 2013 Nov 20.
2
Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies.无 RB1 基因突变的视网膜母细胞瘤的特征：基因组、基因表达和临床研究。
Lancet Oncol. 2013 Apr;14(4):327-34. doi: 10.1016/S1470-2045(13)70045-7. Epub 2013 Mar 13.
3
Screening for large rearrangements of the RB1 gene in Iranian patients with retinoblastoma using multiplex ligation-dependent probe amplification.使用多重连接依赖探针扩增技术对伊朗视网膜母细胞瘤患者的RB1基因进行大片段重排筛查。
Mol Vis. 2013;19:454-62. Epub 2013 Feb 22.
4
Metastatic retinoblastoma clinical features, treatment, and prognosis.转移性视网膜母细胞瘤的临床特征、治疗及预后
Ophthalmology. 2006 Sep;113(9):1558-66. doi: 10.1016/j.ophtha.2006.03.039. Epub 2006 Jul 7.
5
Treatment of metastatic retinoblastoma.转移性视网膜母细胞瘤的治疗
Ophthalmology. 2003 Jun;110(6):1237-40. doi: 10.1016/S0161-6420(03)00258-6.
6
Factors predictive of recurrence of retinal tumors, vitreous seeds, and subretinal seeds following chemoreduction for retinoblastoma.视网膜母细胞瘤化疗减积术后视网膜肿瘤、玻璃体种植和视网膜下种植复发的预测因素。
Arch Ophthalmol. 2002 Apr;120(4):460-4.
7
Unusual subretinal seeding of retinoblastoma.
Am J Ophthalmol. 1968 Apr;65(4):545-8. doi: 10.1016/0002-9394(68)93871-3.

一名11岁亚洲印度男性双侧视网膜母细胞瘤的非典型表现：伴有飞蚊症和内界膜下播散灶

Atypical Presentation of Bilateral Retinoblastoma with Floaters and Sub-Internal Limiting Membrane Seeds in an 11-Year-Old Asian Indian Male.

作者信息

Rishi Pukhraj, Krishnakumar Subramanian, Biswas Jyotirmay, Nair Sridevi

机构信息

Shree Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, India.

Larson and Toubro Department of Ocular Pathology, Vision Research Foundation, Sankara Nethralaya, Chennai, India.

出版信息

Ocul Oncol Pathol. 2018 Sep;4(5):309-312. doi: 10.1159/000486341. Epub 2018 Feb 14.

DOI:10.1159/000486341
PMID:30320103
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6167686/
Abstract

PURPOSE

To report bilateral retinoblastoma in an 11-year-old child presenting with floaters and sub-internal limiting membrane (sub-ILM) seeds.

METHOD

An 11-year-old child presented with floaters of 4 months' duration. Examination revealed circumscribed, whitish, subhyaloid, floccular nodules in the juxtapapillary region of both eyes. No solid tumor was seen. Swept-source optical coherence tomography revealed moderately reflective echoes in the sub-ILM space. Vitreous aspiration of sub-ILM deposits and cytopathological examination revealed retinoblastoma. Intravitreal melphalan (20 μg/0.02 mL) was followed by 6 monthly cycles of high-dose systemic chemotherapy (vincristine, etoposide, carboplatin). Metastatic workup and genetic testing for mutational screening were negative. Ocular lesions resolved after 13 weeks of treatment. Brain metastases developed after 20 weeks and were treated with radiation. Bilateral vitreous seeds recurred at 44 weeks and were treated with intravitreal chemotherapy (melphalan 20 μg/0.02 mL and topotecan 20 μg/0.02 mL). There was no extra-ocular spread from sclerotomy sites.

RESULTS

Retinoblastoma and brain metastases resolved with multimodal treatment without recurrence at 59 weeks of follow-up.

CONCLUSION

Atypical manifestation of retinoblastoma can be seen in older children presenting with "floaters" and bilateral deposits of sub-ILM seeds, without solid tumor.

摘要

目的

报告一名11岁儿童双眼视网膜母细胞瘤，表现为飞蚊症和视网膜内界膜下（sub-ILM）播散灶。

方法

一名11岁儿童出现持续4个月的飞蚊症。检查发现双眼视乳头旁区域有边界清晰的白色玻璃膜下絮状结节。未见实体肿瘤。扫频光学相干断层扫描显示视网膜内界膜下间隙有中等反射回声。对视网膜内界膜下沉积物进行玻璃体抽吸及细胞病理学检查确诊为视网膜母细胞瘤。玻璃体内注射美法仑（20μg/0.02mL），随后进行6个周期的大剂量全身化疗（长春新碱、依托泊苷、卡铂）。转移灶检查及突变筛查的基因检测均为阴性。治疗13周后眼部病变消退。20周后出现脑转移，接受放疗。44周时双眼玻璃体播散灶复发，接受玻璃体内化疗（美法仑20μg/0.02mL和拓扑替康20μg/0.02mL）。巩膜切开部位无眼外扩散。

结果

视网膜母细胞瘤和脑转移经多模式治疗消退，随访59周无复发。

结论

视网膜母细胞瘤的非典型表现可见于年龄较大的儿童，表现为“飞蚊症”和视网膜内界膜下双侧播散灶，无实体肿瘤。