From the Department of Imaging Sciences (M.C.L., S.E., A.C.) and Department of Pathology and Laboratory Medicine (P.J.K.), University of Rochester Medical Center, 601 Elmwood Ave, Box 648, Rochester, NY 14642; University of Rochester School of Medicine and Dentistry, Rochester, NY (J.H.); Departments of Pathology (K.S.) and Radiology (D.B.), Phoenix Children's Hospital, Phoenix, Ariz; Department of Radiology, Seattle Children's Hospital, Seattle, Wash (A.L.S.); and Department of Radiology, Mayo Clinic, Rochester, Minn (N.C.H.).
Radiographics. 2024 Aug;44(8):e240015. doi: 10.1148/rg.240015.
Malignant rhabdoid tumors (MRTs) are rare but lethal solid neoplasms that overwhelmingly affect infants and young children. While the central nervous system is the most common site of occurrence, tumors can develop at other sites, including the kidneys and soft tissues throughout the body. The anatomic site of involvement dictates tumor nomenclature and nosology. While the clinical and imaging manifestations of MRTs and other more common entities may overlap, there are some site-specific distinctive imaging characteristics. Irrespective of the site of occurrence, somatic and germline mutations in , and rarely in , underlie the entire spectrum of rhabdoid tumors. MRTs have a simple and remarkably stable genome but can demonstrate considerable molecular and biologic heterogeneity. Related neoplasms encompass an expanding category of phenotypically dissimilar (nonrhabdoid tumors driven by -related alterations) entities. US, CT, MRI, and fluorodeoxyglucose PET/CT or PET/MRI facilitate diagnosis, initial staging, and follow-up, thus informing therapeutic decision making. Multifocal synchronous or metachronous rhabdoid tumors occur predominantly in the context of underlying rhabdoid tumor predisposition syndromes (RTPSs). These autosomal dominant disorders are driven in most cases by pathogenic variants in (RTPS type 1) and rarely by pathogenic variants in (RTPS type 2). Genetic testing and counseling are imperative in RTPS. Guidelines for imaging surveillance in cases of RTPS are based on age at diagnosis. RSNA, 2024
恶性横纹肌样瘤（MRT）是一种罕见但致命的实体肿瘤，主要影响婴儿和幼儿。虽然中枢神经系统是最常见的发病部位，但肿瘤也可以在其他部位发展，包括肾脏和全身的软组织。受累的解剖部位决定了肿瘤的命名和分类。虽然 MRT 和其他更常见实体的临床和影像学表现可能重叠，但也存在一些特定部位的独特影像学特征。无论发病部位如何，体细胞和种系突变，在极少数情况下，是横纹肌样瘤整个谱的基础。MRT 具有简单而显著稳定的基因组，但可以表现出相当大的分子和生物学异质性。相关肿瘤包括一大类表型不同的肿瘤（非横纹肌样肿瘤由 相关改变驱动）实体。US、CT、MRI、氟脱氧葡萄糖 PET/CT 或 PET/MRI 有助于诊断、初始分期和随访，从而为治疗决策提供信息。多灶性同步或异时性横纹肌样瘤主要发生在横纹肌样瘤易感性综合征（RTPS）的背景下。这些常染色体显性疾病在大多数情况下是由 中的致病性变异（RTPS 型 1）驱动的，很少由 中的致病性变异（RTPS 型 2）驱动。在 RTPS 中进行基因检测和咨询至关重要。基于诊断时的年龄，制定了 RTPS 病例影像学监测指南。RSNA，2024
