Capicua Transcriptional Repressor-Rearranged Undifferentiated Round Cell Sarcoma Metastatic to the Brain Treated with Surgery and Stereotactic Radiosurgery

World Neurosurg. 2020 Jul:139:12-19. doi: 10.1016/j.wneu.2020.03.158. Epub 2020 Apr 3.

Abstract

Background: Ewing-like sarcoma with capicua transcriptional repressor (CIC) rearrangement is a unique class of undifferentiated round cell sarcomas characterized by CIC-double homeobox 4 gene fusion. Despite showing great histologic resemblance to Ewing sarcomas, they have proved to be a distinct pathological entity from the immunohistochemistry and genetic examinations and the response to treatment. We have presented a case of CIC-rearranged Ewing-like sarcoma with cerebral metastasis managed with operative resection and gamma knife radiosurgery.

Case description: A 56-year-old woman had initially presented with an ulcerating lesion of the right fifth toe. The histological and immunohistochemical analysis revealed features consistent with CIC-rearranged Ewing-like sarcoma, which was confirmed with genetic analysis. Despite aggressive local control and a multidrug chemotherapy regimen, the patient developed multifocal metastases involving the lungs, femur, and cerebrum. The cerebral lesions were managed with surgery and gamma knife radiosurgery, with mixed results.

Conclusion: CIC-rearranged Ewing-like sarcomas have recently been recognized as a distinct disease entity with a highly aggressive course. Treatment paradigms have yet to be defined to properly manage such an aggressive pathological process.

Keywords: Brain metastasis; CIC rearrangement; Ewing-like sarcoma; Gamma knife; Radiosurgery.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use*
  • Brain Neoplasms / diagnostic imaging
  • Brain Neoplasms / genetics
  • Brain Neoplasms / secondary
  • Brain Neoplasms / therapy*
  • Female
  • Femoral Neoplasms / diagnostic imaging
  • Femoral Neoplasms / genetics
  • Femoral Neoplasms / secondary
  • Femoral Neoplasms / therapy
  • Gene Rearrangement
  • Humans
  • Lung Neoplasms / genetics
  • Lung Neoplasms / secondary
  • Lung Neoplasms / therapy*
  • Magnetic Resonance Imaging
  • Metastasectomy*
  • Middle Aged
  • Positron-Emission Tomography
  • Radiosurgery*
  • Repressor Proteins / genetics
  • Sarcoma / diagnostic imaging
  • Sarcoma / genetics
  • Sarcoma / secondary
  • Sarcoma / therapy*
  • Soft Tissue Neoplasms / genetics
  • Soft Tissue Neoplasms / pathology
  • Soft Tissue Neoplasms / surgery*
  • Thoracic Surgery, Video-Assisted
  • Toes / surgery*
  • Tomography, X-Ray Computed

Substances

  • CIC protein, human
  • Repressor Proteins