Department of Radiology and Medical Imaging, University of Virginia Health System, 1215 Lee Street, Charlottesville, VA 22903, USA.
Department of Radiology and Medical Imaging, University of Virginia Health System, 1215 Lee Street, Charlottesville, VA 22903, USA.
Radiol Clin North Am. 2021 May;59(3):471-500. doi: 10.1016/j.rcl.2021.01.009.
Tumor predisposition syndromes represent a heterogeneous group of multiorgan disorders, with many having substantial central nervous system involvement. This article highlights the common and uncommon manifestations of these syndromic disorders, the underlying genetic pathways, and the imaging findings. Radiologists must be aware of the diagnostic criteria, optimal imaging techniques (both for diagnosis and surveillance), as well as the innumerable imaging manifestations of these syndromes. Multidisciplinary approach and teamwork are essential in managing these patients, with imaging having a central role as more of these patients get diagnosed earlier and survive longer.
肿瘤易感性综合征是一组异质性的多器官疾病，许多疾病都有实质性的中枢神经系统受累。本文重点介绍了这些综合征性疾病的常见和不常见表现、潜在的遗传途径以及影像学表现。放射科医生必须了解这些疾病的诊断标准、最佳影像学技术（包括诊断和监测），以及这些综合征的无数影像学表现。多学科方法和团队合作对于这些患者的管理至关重要，随着越来越多的患者更早被诊断出来并存活更长时间，影像学发挥着核心作用。
