ZFTA-YAP1 fusion-positive ependymoma can occur in the spinal cord: Letter to the editor,Brain Pathology

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ZFTA-YAP1 fusion-positive ependymoma can occur in the spinal cord: Letter to the editor
Brain Pathology ( IF 5.8 ) Pub Date : 2021-09-10 , DOI: 10.1111/bpa.13020
Ka Young Lim ₁ , Kwang Hoon Lee ₁ , Ji Hoon Phi ₂ , Hongseok Yun ₃ , Jae Kyung Won ₁ , Seung Hong Choi ₄ , Sung-Hye Park _{1,

5}

Affiliation

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.

中文翻译：

ZFTA-YAP1融合阳性室管膜瘤可发生在脊髓：致编辑的信

我们报告了一例伴有ZFTA-YAP1融合的脊柱室管膜瘤，发生在一名主诉背痛的 5 岁男孩身上。它是高级别室管膜瘤，在脊髓 T9-12 水平发展。由于ZFTA-YAP1融合阳性室管膜瘤从未在脊髓中报告过，因此该病例是例外且值得报告，因为解剖位置、遗传学和表观遗传学是室管膜肿瘤分类的重要参数。据我们所知，这是首例由 NGS 和 Sanger 研究诊断的伴有 ZFTA融合的脊柱室管膜瘤。

更新日期：2021-09-10

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