TSC2 alterations in anaplastic ependymoma progression to ependymosarcoma

Elisabet Pujadas, Liam Chen, Jon D. Weingart, Brent Orr, Bryam H. Ozer, Matthias Holdhoff, Fausto J. Rodriguez

Research output: Contribution to journalArticlepeer-review

Abstract

Ependymosarcomas are rare, biphasic tumors composed of ependymal and sarcomatous components. Due to their rarity, their biologic basis is not well understood. We report the case of a 38-year-old male with anaplastic ependymoma (WHO grade III) that progressed to ependymosarcoma in less than 2 years after multiple resections, chemoradiotherapy, and anti-PD1 immunotherapy. Next-generation sequencing was performed on both high-grade anaplastic ependymoma and ependymosarcoma samples to detect small base changes, insertions, and deletions in exons and splice junctions from a panel of over 400 genes. We identify genetic variants in the tumor suppressors RB1, TP53, and TSC2 in these samples and discuss the potential significance of an additional TSC2 genetic variant in the progression to ependymosarcoma.

Original languageEnglish (US)
Pages (from-to)179-187
Number of pages9
JournalClinical Neuropathology
Volume39
Issue number4
DOIs
StatePublished - Aug 2020

Bibliographical note

Funding Information:
This study was funded in part by NIH grant P30 CA006973 to the Sidney Kimmel Comprehensive Cancer Center (PI: W. Nelson).

Keywords

  • Brain tumor
  • Ependymoma
  • Ependymosarcoma
  • Next-generation sequencing
  • TSC2

Fingerprint Dive into the research topics of 'TSC2 alterations in anaplastic ependymoma progression to ependymosarcoma'. Together they form a unique fingerprint.

Cite this