Imaging of Histiocytosis in the Era of Genomic Medicine.
Imaging of Histiocytosis in the Era of Genomic Medicine.
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基因组医学时代的组织细胞增多症的成像。
DOI：
10.1148/rg.2019180054
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发表时间：
2019
期刊：
影响因子：
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通讯作者：
Jacobsen,EricD
中科院分区：
文献类型：
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作者：
Park,Hyesun;Nishino,Mizuki;Hornick,JasonL;Jacobsen,EricD
组织细胞增多症描述了一组在医学史上一直被认为是谜的疾病。最近，新的基因组分析已经确定了与这些实体的发病有关的体细胞致癌驱动突变。这些发现导致将组织细胞增多症重新定性为肿瘤性疾病，并开启了精确医学治疗方法的新时代。组织细胞疾病表现为累及多个器官系统的多种影像表现，放射科医生在诊断和监测中发挥着重要作用。对新的基因组发现及其影响的最新知识对于放射科医生理解治疗组织细胞疾病的新方法并作为多学科治疗团队的关键成员做出贡献至关重要。本文对组织细胞增生症的新概念进行了前沿回顾，重点介绍了最新的基因组发现和治疗该疾病的精确医学方法，并描述了与相关组织学和基因组学结果相关的影像表现，重点介绍了成人发病病例和罕见亚型。
Histiocytosis describes a group of diseases that have long been considered enigmatic in the history of medicine. Recently, novel genomic analyses have identified somatic oncogenic driver mutations responsible for the pathogenesis of these entities. These discoveries have led to the recharacterization of histiocytoses as neoplastic diseases and have opened a new era of precision medicine approaches for treatment. The histiocytic disorders demonstrate a variety of imaging manifestations involving multiple organ systems, and radiologists play a major role in diagnosis and monitoring. An up-to-date knowledge of the novel genomic discoveries and their implications is essential for radiologists to understand the new approaches to treating histiocytic disorders and to contribute as key members of the multidisciplinary treatment team. This article provides a cutting-edge review of the novel concepts in histiocytosis, with a focus on recent genomic discoveries and precision medicine approaches to treating the disease, and describes imaging manifestations with correlative histologic and genomic findings, with an emphasis on adult-onset cases and uncommon subtypes.©RSNA, 2018