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[肿瘤易感性综合征的影像学检查]

[Imaging of tumor predisposition syndromes].

作者信息

Glutig K, Pfeil A, Renz D M

机构信息

Institut für Diagnostische und Interventionelle Radiologie, Sektion Kinderradiologie, Universitätsklinikum Jena, 07740, Jena, Deutschland.

Klinik für Innere Medizin III, Universitätsklinikum Jena, 07740, Jena, Deutschland.

出版信息

Radiologe. 2021 Jul;61(7):658-666. doi: 10.1007/s00117-021-00861-z. Epub 2021 Jun 25.

Abstract

CLINICAL ISSUE

Tumor predisposition syndromes (TPS) are a heterogeneous group of genetic cancers. About 10% of the approximately 2200 malignancies in the childhood in Germany develop due to an inherited disposition, whereby TPS may be underdiagnosed. The focus of this review is set on imaging of Li-Fraumeni syndrome, neurofibromatoses, tuberous sclerosis, overgrowth, and neuroendocrine syndromes.

STANDARD RADIOLOGICAL METHODS

In order to detect tumors at an early stage, screening at specific time intervals for each TPS are required. Ultrasonography and magnetic resonance imaging (MRI), especially whole-body MRI, are particularly important imaging modalities.

METHODOLOGICAL INNOVATIONS

Innovative MRI techniques can increase image quality and patient comfort. MRI acquisition time can be significantly reduced through optimized acceleration factors, motion robust radial sequences and joint acquisition and readout of multiple slices during excitation. Thus, shorter MRI examinations can be performed in younger children without anesthesia.

PRACTICAL RECOMMENDATION

Regular screening with ultrasound and MRI can reduce the morbidity and mortality of the patients affected with TPS.

摘要

临床问题

肿瘤易感综合征(TPS)是一组异质性遗传性癌症。在德国,儿童期约2200例恶性肿瘤中,约10%是由遗传易感性引起的,TPS可能存在诊断不足的情况。本综述的重点是李-弗劳梅尼综合征、神经纤维瘤病、结节性硬化症、过度生长综合征和神经内分泌综合征的影像学表现。

标准放射学方法

为了早期发现肿瘤,需要针对每种TPS在特定时间间隔进行筛查。超声检查和磁共振成像(MRI),尤其是全身MRI,是特别重要的成像方式。

方法学创新

创新的MRI技术可以提高图像质量并提升患者舒适度。通过优化加速因子、运动稳健的径向序列以及在激发过程中联合采集和读出多个层面,可以显著缩短MRI采集时间。因此,对于年幼儿童无需麻醉即可进行更短时间的MRI检查。

实际建议

定期进行超声和MRI筛查可以降低TPS患者的发病率和死亡率。

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