Oon Ming Liang, Hendriansyah Lutfi, Pratiseyo Patricia Diana, Wahjoepramono Eka, Goh Jian Yuan, Kuick Chik Hong, Chang Kenneth Te, Perry Arie, Tan Char Loo
Department of Pathology, National University Health System, Singapore Singapore.
Department of Neurosurgery, Siloam Hospital Lippo Village Karawaci, Tangerang Indonesia.
Free Neuropathol. 2021 Sep 20;2:24. doi: 10.17879/freeneuropathology-2021-3397. eCollection 2021 Jan.
Ependymomas are glial neoplasms with a wide morphological spectrum. The majority of supratentorial ependymomas are known to harbor fusions, most commonly to . We present an unusual case of a 9-year-old boy with a supratentorial ependymoma harboring a noncanonical fusion. This case had unusual histomorphological features lacking typical findings of ependymoma and bearing resemblance to a primitive neoplasm with focal, previously undescribed myogenic differentiation. We discuss the diagnostic pitfalls in this case and briefly review the histological features of ependymoma with noncanonical gene fusions. Our report underscores the importance of molecular testing in such cases to arrive at the correct diagnosis. Supratentorial ependymomas with noncanonical fusions are rare, and more studies are necessary for better risk stratification and identification of potential treatment targets.
室管膜瘤是一类具有广泛形态学谱的神经胶质瘤。已知幕上室管膜瘤大多存在融合，最常见的是与……融合。我们报告了一例不寻常的病例，一名9岁男孩患有幕上室管膜瘤，伴有非典型的……融合。该病例具有不寻常的组织形态学特征，缺乏室管膜瘤的典型表现，与具有局灶性、此前未描述的肌源性分化的原始肿瘤相似。我们讨论了该病例的诊断陷阱，并简要回顾了具有非典型基因融合的室管膜瘤的组织学特征。我们的报告强调了在此类病例中进行分子检测以得出正确诊断的重要性。具有非典型融合的幕上室管膜瘤很罕见，需要更多研究以更好地进行风险分层和识别潜在的治疗靶点。
