Department of Pathology, Seoul National University College of Medicine, Seoul, Republic of Korea.
Department of Neurosurgery, Seoul National University College of Medicine, Seoul, Republic of Korea.
Brain Pathol. 2022 Jan;32(1):e13020. doi: 10.1111/bpa.13020. Epub 2021 Sep 10.
We report a case of spinal ependymoma with ZFTA-YAP1 fusion, occurring in a 5-year-old boy who complained of back pain. It was high-grade ependymoma, developed in the spinal cord at the level of T9-12. Since ZFTA-YAP1 fusion-positive ependymoma has never been reported in the spinal cord, this case is exceptional and worth reporting because the anatomical location, genetics, and epigenetics are important parameters in the classification of the ependymal tumor. This is the first case of spinal ependymoma harboring ZFTA-fusion to be diagnosed by NGS and Sanger studies to the best of our knowledge.
我们报告了一例发生于 5 岁男孩的脊髓室管膜瘤伴 ZFTA-YAP1 融合病例，该男孩主诉背痛。该肿瘤为高级别室管膜瘤，发生于 T9-12 脊髓水平。由于 ZFTA-YAP1 融合阳性的室管膜瘤从未在脊髓中报道过，因此该病例较为特殊，值得报告，因为解剖位置、遗传学和表观遗传学是室管膜瘤分类的重要参数。据我们所知，这是首例通过 NGS 和 Sanger 研究诊断的带有 ZFTA 融合的脊髓室管膜瘤。
