The Multifaceted Appearance of Supratentorial Ependymoma with ZFTA-MAML2 Fusion
Keywords:Ependymoma, ZFTA, C11orf95, MAML2, Myogenic
Ependymomas are glial neoplasms with a wide morphological spectrum. The majority of supratentorial ependymomas are known to harbor ZFTA fusions, most commonly to RELA. We present an unusual case of a 9-year-old boy with a supratentorial ependymoma harboring a noncanonical ZFTA-MAML2 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.
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Copyright (c) 2021 Ming Liang Oon, Lutfi Hendriansyah, Patricia Diana Pratiseyo, Eka Wahjoepramono, Jian Yuan Goh, Chik Hong Kuick, Kenneth TE Chang, Arie Perry, Char Loo Tan
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