1. Primary Spinal Epidural CIC-DUX4 Undifferentiated Sarcoma in a Child
- Author
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Shamlal Mangray, Evgeny Yakirevich, Diana O. Treaba, Siraj M. Ali, Nelli S. Lakis, Shan Zhong, Suzanne M. de la Monte, and John E. Donahue
- Subjects
Pathology ,medicine.medical_specialty ,Adolescent ,Oncogene Proteins, Fusion ,In situ hybridization ,Undifferentiated sarcoma ,Article ,Thoracic Vertebrae ,Pathology and Forensic Medicine ,Fusion gene ,03 medical and health sciences ,Exon ,Fatal Outcome ,0302 clinical medicine ,DUX4 ,Biomarkers, Tumor ,medicine ,Humans ,Oncogene Fusion ,business.industry ,Breakpoint ,Soft tissue ,Sarcoma ,General Medicine ,medicine.disease ,030220 oncology & carcinogenesis ,Pediatrics, Perinatology and Child Health ,Female ,Epidural Neoplasms ,business ,030217 neurology & neurosurgery - Abstract
Primitive round- or spindle-cell EWSR1-negative undifferentiated sarcomas harboring CIC-DUX4 gene fusion are the most common form of Ewing-like sarcomas. These tumors primarily occur in peripheral soft tissues, but examples have been described within viscera and the brain. As far as we are aware, CIC-DUX4 positive primary epidural spinal sarcoma has not been reported. Herein, we describe a T5–T6 epidural tumor in a 15-year-old girl in which many neoplastic cells had moderate and focally abundant cytoplasm, including plasmacytoid or rhabdoid cells, rather than the more common Ewing-like morphology described in the majority of such tumors. The diagnosis was confirmed by fluorescent in situ hybridization after the tumor was found to be WT-1 positive, and comprehensive genomic profiling demonstrated breakpoints in exon 20 and exon 1 of the CIC and DUX4 genes, respectively. After treatment with local radiation and systemic chemotherapy, resected recurrent tumor demonstrated more pleomorphic neoplastic cells as well as intracytoplasmic eosinophilic globules and nuclear pseudoinclusions which may reflect therapy-related changes. Unfortunately, there was further progression of tumor including the development of intracranial lesions, and the patient succumbed to her tumor 22 months after the original resection.
- Published
- 2017