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[视网膜母细胞瘤的影像学：当前技术水平与未来展望]

[Imaging of retinoblastoma : Current state-of-the-art and future prospects].

作者信息

Schweiger Bernd, Göricke Sophia, Ketteler Petra, Biewald Eva, Kottke Raimund, Sirin Selma

机构信息

Institut für Diagnostische und Interventionelle Radiologie und Neuroradiologie, Universitätsklinikum Essen, Essen, Deutschland.

Klinik für Pädiatrische Hämatologie und Onkologie, Universitätsklinikum Essen, Essen, Deutschland.

出版信息

Radiologie (Heidelb). 2022 Dec;62(12):1067-1074. doi: 10.1007/s00117-022-01052-0. Epub 2022 Aug 15.

DOI:10.1007/s00117-022-01052-0
PMID:35969246
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9712334/
Abstract

BACKGROUND

Retinoblastoma is the most common malignant eye tumor in children and is associated with tumor predisposition syndrome (RB1 mutation) in up to 40% of cases. Imaging is an important part of the diagnostic workup of children with retinoblastoma both during the initial diagnosis and follow-up.

OBJECTIVES

The goal of this review is to present the current state-of-the-art regarding imaging of children with retinoblastoma, including technical background and diagnostic clues with a brief discussion of future prospects. In addition, we summarize the general clinical diagnostic workup and therapeutic options.

MATERIALS AND METHODS

Review of the literature and our own experience in the imaging of retinoblastoma.

CONCLUSION

High-resolution magnetic resonance imaging (MRI) is the imaging modality of choice in children with retinoblastoma for diagnosis (estimation of diagnosis/differential diagnosis, evaluation of local and intracranial tumor extension) and during follow-up. Despite the characteristic calcifications, computed tomography (CT) examinations are no longer indicated in these patients. Due to the high association with tumor predisposition syndrome, genetic counselling is recommended.

摘要

背景

视网膜母细胞瘤是儿童最常见的恶性眼肿瘤，高达40%的病例与肿瘤易感综合征（RB1突变）相关。影像学检查在视网膜母细胞瘤患儿的初始诊断和随访过程中都是诊断检查的重要组成部分。

目的

本综述的目的是介绍视网膜母细胞瘤患儿影像学检查的当前技术水平，包括技术背景和诊断线索，并简要讨论未来前景。此外，我们总结了一般的临床诊断检查和治疗选择。

材料与方法

回顾文献以及我们自己在视网膜母细胞瘤影像学检查方面的经验。

结论

高分辨率磁共振成像（MRI）是视网膜母细胞瘤患儿诊断（诊断/鉴别诊断评估、局部和颅内肿瘤扩展评估）及随访的首选影像学检查方法。尽管有特征性钙化，但这些患者不再建议进行计算机断层扫描（CT）检查。由于与肿瘤易感综合征高度相关，建议进行遗传咨询。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/038d/9712334/f74ec7089cae/117_2022_1052_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/038d/9712334/7e115e92d2eb/117_2022_1052_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/038d/9712334/a93e5c0de9f8/117_2022_1052_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/038d/9712334/5966c47ae4d2/117_2022_1052_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/038d/9712334/ea3e6b607039/117_2022_1052_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/038d/9712334/a2ae63a3bc6e/117_2022_1052_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/038d/9712334/f74ec7089cae/117_2022_1052_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/038d/9712334/7e115e92d2eb/117_2022_1052_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/038d/9712334/a93e5c0de9f8/117_2022_1052_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/038d/9712334/5966c47ae4d2/117_2022_1052_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/038d/9712334/ea3e6b607039/117_2022_1052_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/038d/9712334/a2ae63a3bc6e/117_2022_1052_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/038d/9712334/f74ec7089cae/117_2022_1052_Fig6_HTML.jpg

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本文引用的文献

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MRI-based radiomics model can improve the predictive performance of postlaminar optic nerve invasion in retinoblastoma.基于 MRI 的放射组学模型可提高视网膜母细胞瘤术后视神经侵犯的预测性能。
Br J Radiol. 2022 Feb 1;95(1130):20211027. doi: 10.1259/bjr.20211027. Epub 2021 Dec 3.
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Multi-view convolutional neural networks for automated ocular structure and tumor segmentation in retinoblastoma.多视图卷积神经网络在视网膜母细胞瘤中自动眼部结构和肿瘤分割。
Sci Rep. 2021 Jul 16;11(1):14590. doi: 10.1038/s41598-021-93905-2.
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Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria.
儿童眼部肿瘤作为肿瘤易感性综合征的首发体征：来自德国和奥地利一项观察性研究的见解
Cancers (Basel). 2021 Apr 14;13(8):1876. doi: 10.3390/cancers13081876.
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MR Imaging Features to Differentiate Retinoblastoma from Coats' Disease and Persistent Fetal Vasculature.鉴别视网膜母细胞瘤与科茨病及永存原始玻璃体增生症的磁共振成像特征
Cancers (Basel). 2020 Nov 30;12(12):3592. doi: 10.3390/cancers12123592.
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Whole-body magnetic resonance imaging as surveillance for subsequent malignancies in preadolescent, adolescent, and young adult survivors of germline retinoblastoma: An update.基于种系视网膜母细胞瘤的未成年、青少年和年轻成年幸存者后续恶性肿瘤的全身磁共振成像监测：更新。
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[Retinoblastoma].[视网膜母细胞瘤]
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MR Imaging Features of Retinoblastoma: Association with Gene Expression Profiles.视网膜母细胞瘤的磁共振成像特征：与基因表达谱的关联。
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