Primary spinal intramedullary Ewing-like sarcoma harboring CIC-DUX4 translocation: a similar cytological appearance as its soft tissue counterpart but no lobulation in association with desmoplastic stroma

Seiji Yamada, Jun Muto, John Clemente Aniceto De Leon, Tadashi Kumai, Keisuke Ito, Kazuhiro Murayama, Natsuko Hama, Yoshiko Nakano, Kaishi Satomi, Yasuhito Arai, Tatsuhiro Shibata, Tatsushi Inoue, Sumihito Nobusawa, Koichi Ichimura, Yuichi Hirose, Masato Abe

Research output: Contribution to journalArticlepeer-review

Abstract

The CIC-DUX4 translocation is the most common genetic alteration of small round cell sarcomas without EWSR1 rearrangement. These “Ewing-like sarcomas” usually occur in peripheral soft tissues, and rare primary central nervous system (CNS) tumors have been described. We report a rare case of primary spinal intramedullary Ewing-like sarcoma harboring CIC-DUX4 translocation. A 23-year-old man presented with weakness in the extremities. Magnetic resonance imaging revealed a large intramedullary tumor spanning C3–C5 with heterogeneous enhancement following gadolinium administration. Histologically, most of the tumor displayed dense myeloid proliferation composed of medium- to slightly small-sized primitive cells. Postoperatively, he received local adjuvant radiation therapy without tumor progression for 10 months. Target RNA sequencing analysis revealed the CIC-DUX4 fusion gene. Methylation array analysis resulted in a diagnosis of “methylation class CNS Ewing sarcoma family tumor with CIC alteration”. Although this tumor lacked characteristic histological features such as lobular structures in association with desmoplastic stroma, relatively uniform nuclei with prominent nucleoli and eosinophilic cytoplasm, which are often found in CIC-rearranged sarcomas of soft tissue, were identified. Recently, many CNS and soft tissue tumors require genetic analysis for precise diagnosis. To consider certain molecular testing, careful histological examination is essential.

Original languageEnglish
Pages (from-to)111-117
Number of pages7
JournalBrain tumor pathology
Volume37
Issue number3
DOIs
Publication statusPublished - 01-07-2020

All Science Journal Classification (ASJC) codes

  • Oncology
  • Clinical Neurology
  • Cancer Research

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