儿童头颈部受累的癌症易感综合征:影像学指南。

IF 2.3 4区 医学 Q3 CLINICAL NEUROLOGY
Livja Mertiri, Nilesh Desai, Maarten Lequin, Denada Mertiri, Hui Brandon Tran, Cesar Alves, Marcello Chiocchi, Thierry A. G. M. Huisman, Felice D'Arco
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引用次数: 0

摘要

癌症易感综合征(cps)是一组遗传性疾病,可显著增加从婴儿期到成年期发生各种癌症的风险。cps约占儿科癌症的10%,是受影响儿童发病和死亡的主要原因。遗传模式和可变外显率影响发病年龄和临床病程,导致表现的实质性变化,甚至在一个家庭内。早期识别cps至关重要,因为及时诊断可以进行健康监测、预防性干预和对患者及其家属的遗传咨询。已经制定了指导方针和监测计划,以确定高危患者并协调长期护理。本综述的重点是与儿童癌症相关的最常见的CPSs,特别强调涉及头颈部区域。对于每种综合征,我们提供了一个背景总结,包括其遗传学和临床表现,然后详细描述了特征性头颈部影像学发现。然后提出了说明性病例示例,以演示临床和成像特征的频谱。它突出了影像特征,以帮助提供者阅读这些研究在早期识别所有可能的病理表现在这些综合征。关键的CPSs包括视网膜母细胞瘤、Li-Fraumeni综合征、1型神经纤维瘤病、DICER1综合征、横纹肌样肿瘤易感性综合征、Gorlin-Goltz综合征、遗传性副神经节瘤-嗜铬细胞瘤综合征、体质错配修复缺陷综合征和神经母细胞瘤易感性综合征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Cancer Predisposition Syndromes With Involvement of the Head and Neck Regions in Children: An Imaging Guide

Cancer Predisposition Syndromes With Involvement of the Head and Neck Regions in Children: An Imaging Guide

Cancer predisposition syndromes (CPSs) are a group of inherited disorders that significantly increase the risk of developing various cancers, ranging from infancy through adulthood. CPSs account for about 10% of the pediatric cancers, and they represent a major cause of morbidity and mortality in affected children. The inheritance pattern and the variable penetrance influence the age of onset and the clinical course, resulting in substantial variation in presentation, even within a single family. Early recognition of CPSs is crucial, as timely diagnosis allows for health surveillance, preventive interventions, and genetic counselling for patients and their families. Guidelines and surveillance programs have been developed to identify at-risk patients and coordinate long-term care. This review focuses on the most common CPSs associated with pediatric cancers, with particular emphasis on the involvement of the head and neck region. For each syndrome, we provide a background summary including its genetics and clinical manifestations, followed by a detailed description of characteristic head and neck imaging findings. Illustrative case examples are then presented to demonstrate the spectrum of clinical and imaging features. It highlights imaging features to assist providers reading these studies in the early identification of all possible pathological manifestations in these syndromes. Key CPSs covered include retinoblastoma, Li–Fraumeni syndrome, neurofibromatosis type 1, DICER1 syndrome, rhabdoid tumor predisposition syndrome, Gorlin–Goltz syndrome, hereditary paraganglioma–pheochromocytoma syndrome, constitutional mismatch repair deficiency syndrome, and neuroblastoma predisposition syndrome.

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来源期刊
Journal of Neuroimaging
Journal of Neuroimaging 医学-核医学
CiteScore
4.70
自引率
0.00%
发文量
117
审稿时长
6-12 weeks
期刊介绍: Start reading the Journal of Neuroimaging to learn the latest neurological imaging techniques. The peer-reviewed research is written in a practical clinical context, giving you the information you need on: MRI CT Carotid Ultrasound and TCD SPECT PET Endovascular Surgical Neuroradiology Functional MRI Xenon CT and other new and upcoming neuroscientific modalities.The Journal of Neuroimaging addresses the full spectrum of human nervous system disease, including stroke, neoplasia, degenerating and demyelinating disease, epilepsy, tumors, lesions, infectious disease, cerebral vascular arterial diseases, toxic-metabolic disease, psychoses, dementias, heredo-familial disease, and trauma.Offering original research, review articles, case reports, neuroimaging CPCs, and evaluations of instruments and technology relevant to the nervous system, the Journal of Neuroimaging focuses on useful clinical developments and applications, tested techniques and interpretations, patient care, diagnostics, and therapeutics. Start reading today!
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