Anaplastic transformation in myxopapillary ependymoma: A report of 2 cases and review of the literature

Lorenzo Gitto, Serenella Serinelli, Kristyn Galbraith, Michael Williams, Kanish Mirchia, Michael A. Galgano, Satish Krishnamurthy, Gustavo De la Roza, Mariano S. Viapiano, Jamie M. Walker, George Jour, Jonathan Serrano, Michael DeLorenzo, Matija Snuderl, Timothy E. Richardson

Research output: Contribution to journalArticlepeer-review

Abstract

Myxopapillary ependymoma (MPE) is a relatively common neoplasm arising primarily in the filum terminale/lumbosacral region of the spinal cord. It is designated as a grade I tumor in the most recent WHO Classification of Tumours of the CNS, although aggressive clinical behavior can be observed, especially in cases arising in an extradural location. Anaplastic transformation in MPE is exceedingly rare with <20 examples reported in the English literature, and consensus on diagnostic features and definitive grading remain to be determined. Here, we present 2 cases of recurrent MPE with anaplastic features, both of which had histology consistent with conventional MPE as well as areas with significant atypia, frequent mitotic figures, elevated Ki-67 proliferation indices (>10%-50%), necrosis, and focal vascular proliferation. Targeted next-generation sequencing panels revealed no definitive pathogenic mutations or fusion proteins in either case. Copy number profiling, methylation profiling, and t-Distributed Stochastic Neighbor Embedding were performed to investigate the molecular characteristics of these tumors. To the best of our knowledge, these are the first reported cases of MPE with anaplastic features with methylation profiling data. In addition, we review the literature and discuss common histologic and molecular findings associated with anaplastic features in MPE.

Original languageEnglish (US)
Pages (from-to)1044-1053
Number of pages10
JournalJournal of Neuropathology and Experimental Neurology
Volume79
Issue number10
DOIs
StatePublished - 2020

Keywords

  • Anaplasia
  • Anaplastic
  • Glioma
  • Myxopapillary ependymoma
  • Spine

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neurology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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