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000178090 1001_ $$aShatara, Margaret$$b0
000178090 245__ $$aClinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas.
000178090 260__ $$aLondon$$bBiomed Central$$c2021
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000178090 520__ $$aPrimary spinal cord tumors contribute to ≤ 10% of central nervous system tumors in individuals of pediatric or adolescent age. Among intramedullary tumors, spinal ependymomas make up ~ 30% of this rare tumor population. A twelve-year-old male presented with an intradural, extramedullary mass occupying the dorsal spinal canal from C6 through T2. Gross total resection and histopathology revealed a World Health Organization (WHO) grade 2 ependymoma. He recurred eleven months later with extension from C2 through T1-T2. Subtotal resection was achieved followed by focal proton beam irradiation and chemotherapy. Histopathology was consistent with WHO grade 3 ependymoma. Molecular profiling of the primary and recurrent tumors revealed a novel amplification of the MYC (8q24) gene, which was confirmed by fluorescence in situ hybridization studies. Although MYC amplification in spinal ependymoma is exceedingly rare, a newly described classification of spinal ependymoma harboring MYCN (2p24) amplification (SP-MYCN) has been defined by DNA methylation-array based profiling. These individuals typically present with a malignant progression and dismal outcomes, contrary to the universally excellent survival outcomes seen in other spinal ependymomas. DNA methylation array-based classification confidently classified this tumor as SP-MYCN ependymoma. Notably, among the cohort of 52 tumors comprising the SP-MYCN methylation class, none harbor MYC amplification, highlighting the rarity of this genomic amplification in spinal ependymoma. A literature review comparing our individual to reported SP-MYCN tumors (n = 26) revealed similarities in clinical, histopathologic, and molecular features. Thus, we provide evidence from a single case to support the inclusion of MYC amplified spinal ependymoma within the molecular subgroup of SP-MYCN.
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000178090 650_7 $$2Other$$aAmplification
000178090 650_7 $$2Other$$aDNA methylation array
000178090 650_7 $$2Other$$aEpendymoma
000178090 650_7 $$2Other$$aFISH
000178090 650_7 $$2Other$$aMYC
000178090 650_7 $$2Other$$aMYCN
000178090 650_7 $$2Other$$aPediatric
000178090 650_7 $$2Other$$aSpinal
000178090 7001_ $$00000-0002-2688-8680$$aSchieffer, Kathleen M$$b1
000178090 7001_ $$aKlawinski, Darren$$b2
000178090 7001_ $$aThomas, Diana L$$b3
000178090 7001_ $$aPierson, Christopher R$$b4
000178090 7001_ $$aSribnick, Eric A$$b5
000178090 7001_ $$aJones, Jeremy$$b6
000178090 7001_ $$aRodriguez, Diana P$$b7
000178090 7001_ $$aDeeg, Carol$$b8
000178090 7001_ $$aHamelberg, Elizabeth$$b9
000178090 7001_ $$aLaHaye, Stephanie$$b10
000178090 7001_ $$aMiller, Katherine E$$b11
000178090 7001_ $$aFitch, James$$b12
000178090 7001_ $$aKelly, Benjamin$$b13
000178090 7001_ $$aLeraas, Kristen$$b14
000178090 7001_ $$aPfau, Ruthann$$b15
000178090 7001_ $$aWhite, Peter$$b16
000178090 7001_ $$aMagrini, Vincent$$b17
000178090 7001_ $$aWilson, Richard K$$b18
000178090 7001_ $$aMardis, Elaine R$$b19
000178090 7001_ $$aAbdelbaki, Mohamed S$$b20
000178090 7001_ $$aFinlay, Jonathan L$$b21
000178090 7001_ $$aBoué, Daniel R$$b22
000178090 7001_ $$aCottrell, Catherine E$$b23
000178090 7001_ $$0P:(DE-HGF)0$$aGhasemi, David R$$b24
000178090 7001_ $$0P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d$$aPajtler, Kristian W$$b25$$udkfz
000178090 7001_ $$aOsorio, Diana S$$b26
000178090 773__ $$0PERI:(DE-600)2715589-4$$a10.1186/s40478-021-01296-2$$gVol. 9, no. 1, p. 192$$n1$$p192$$tActa Neuropathologica Communications$$v9$$x2051-5960$$y2021
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