TY - JOUR
T1 - Anaplastic transformation in myxopapillary ependymoma
T2 - A report of 2 cases and review of the literature
AU - Gitto, Lorenzo
AU - Serinelli, Serenella
AU - Galbraith, Kristyn
AU - Williams, Michael
AU - Mirchia, Kanish
AU - Galgano, Michael A.
AU - Krishnamurthy, Satish
AU - De la Roza, Gustavo
AU - Viapiano, Mariano S.
AU - Walker, Jamie M.
AU - Jour, George
AU - Serrano, Jonathan
AU - DeLorenzo, Michael
AU - Snuderl, Matija
AU - Richardson, Timothy E.
N1 - Funding Information:
Send correspondence to: Timothy E. Richardson, DO, PhD, Department of Pathology, State University of New York, Upstate Medical University, 750 E. Adams St., UH 6805A, Syracuse, NY 13210; E-mail: richatim@ upstate.edu Methylation profiling at NYU is supported in part by grants from the Fried-berg Charitable Foundation and the Making Headway Foundation (to M.S.).
Publisher Copyright:
© 2020 American Association of Neuropathologists, Inc.
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - Anaplasia
KW - Anaplastic
KW - Glioma
KW - Myxopapillary ependymoma
KW - Spine
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U2 - 10.1093/JNEN/NLAA077
DO - 10.1093/JNEN/NLAA077
M3 - Article
C2 - 32743660
AN - SCOPUS:85091323916
VL - 79
SP - 1044
EP - 1053
JO - Journal of Neuropathology and Experimental Neurology
JF - Journal of Neuropathology and Experimental Neurology
SN - 0022-3069
IS - 10
ER -