Schweiger Bernd, Göricke Sophia, Ketteler Petra, Biewald Eva, Kottke Raimund, Sirin Selma
Institut für Diagnostische und Interventionelle Radiologie und Neuroradiologie, Universitätsklinikum Essen, Essen, Deutschland.
Klinik für Pädiatrische Hämatologie und Onkologie, Universitätsklinikum Essen, Essen, Deutschland.
Radiologie (Heidelb). 2022 Dec;62(12):1067-1074. doi: 10.1007/s00117-022-01052-0. Epub 2022 Aug 15.
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.
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.
Review of the literature and our own experience in the imaging of retinoblastoma.
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.
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。
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。
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。
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。