Vanmarcke Cedric, Marcelis Lukas, Bempt Isabelle Vanden, Sciot Raf, Devos Johannes
Department of Radiology, UZ Leuven, Leuven, Belgium.
Department of Pathology, UZ Leuven, Leuven, Belgium.
J Belg Soc Radiol. 2024 Nov 20;108(1):107. doi: 10.5334/jbsr.3431. eCollection 2024.
and () gene fusion central nervous system (CNS) tumors are increasingly recognized as a potential distinct entity, with only limited reported cases. The imaging characteristics of these tumors have not been well established. In this study, we provide a detailed radiological description of a case in a 24‑year‑old man and conduct a literature review to identify common imaging features. A total of seven cases, including our own, were evaluated. Histopathological diagnoses included two ependymomas, an infantile glioblastoma, an astroblastoma, a ganglioglioma, and two gliomas not otherwise specified. Common imaging patterns included avid contrast enhancement, intratumoral cysts, intraventricular location or extension leading to hydrocephalus, and sharp delineation. Additional frequently observed features included calcifications and hemorrhagic foci. In conclusion, although the histopathological appearance of gene fusion CNS tumors is diverse, there are consistent imaging features. Recognition of these features can be valuable in the diagnostic process, as radiologists can be the first to suggest the diagnosis.
并且（）基因融合的中枢神经系统（CNS）肿瘤越来越被认为是一种潜在的独特实体，报告的病例有限。这些肿瘤的影像学特征尚未完全明确。在本研究中，我们对一名24岁男性病例进行了详细的放射学描述，并进行文献综述以确定常见的影像学特征。总共评估了包括我们自己病例在内的7例病例。组织病理学诊断包括2例室管膜瘤、1例婴儿型胶质母细胞瘤、1例成星形细胞瘤、1例神经节胶质瘤和2例未另行分类的胶质瘤。常见的影像学表现包括明显的对比增强、瘤内囊肿、脑室位置或扩展导致脑积水以及边界清晰。其他常见特征包括钙化和出血灶。总之，尽管基因融合的中枢神经系统肿瘤的组织病理学表现多样，但存在一致的影像学特征。认识到这些特征在诊断过程中可能很有价值，因为放射科医生可能是首先提出诊断的人。
