MYCN-amplified spinal ependymoma

Clinical History:

This 40-year-old patient has increasing back pain and lower extremity paraparesis. MRI of the cervical and lumbar spine with and without contrast showed multiple intradural leptomeningeal enhancing masses (spinal dissemination) with compression of the conus medullaris region. Brain MRI was normal. A biopsy was performed.

What is your diagnosis based on H&E, immunohistochemical (EMA, GFAP and KI67) and MYCN FISH images?

Answer:

• Spinal ependymoma, MYCN-amplified
• This uncommon subtype of ependymal neoplasm typically shows high grade morphologic features, behaves aggressively shows early spinal leptomeningeal dissemination. Please see references.

Reference(s) / Additional Reading:

• WHO Classification of Tumours Editorial Board. Central nervous system tumours [Internet]. Lyon (France): International Agency for Research on Cancer (WHO classification of tumours series, 5th ed.; vol. 6); 2021 [cited 2022 Jan 31].
• Ghasemi DR, Sill M, Okonechnikov K, Korshunov A, Yip S, Schutz PW, Scheie D, Kruse A, Harter PN, Kastelan M, Wagner M, Hartmann C, Benzel J, Maass KK, Khasraw M, Sträter R, Thomas C, Paulus W, Kratz CP, Witt H, Kawauchi D, Herold-Mende C, Sahm F, Brandner S, Kool M, Jones DTW, von Deimling A, Pfister SM, Reuss DE, Pajtler KW. MYCN amplification drives an aggressive form of spinal ependymoma. Acta Neuropathol. 2019 Dec;138(6):1075-1089. doi: 10.1007/s00401-019-02056-2. Epub 2019 Aug 14. PMID: 31414211; PMCID: PMC6851394.
• Rao S, Sugur H, Konar S, Arivazhagan A, Santosh V. MYCN amplification in spinal ependymoma: A five-year retrospective study. Neuropathology. 2023 Dec;43(6):457-462. doi: 10.1111/neup.12912. Epub 2023 May 23. PMID: 37221449.
• Raffeld M, Abdullaev Z, Pack SD, Xi L, Nagaraj S, Briceno N, Vera E, Pittaluga S, Lopes Abath Neto O, Quezado M, Aldape K, Armstrong TS, Gilbert MR. High level MYCN amplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma. Acta Neuropathol Commun. 2020 Jul 8;8(1):101. doi: 10.1186/s40478-020-00973-y. PMID: 32641156; PMCID: PMC7346356.