Undifferentiated small round cell sarcoma in a young male: A case report

Cora A. Ricker, Noah E. Berlow, Kenneth A. Crawford, Todd Georgopapadakos, Audrey N. Huelskamp, Andrew D. Woods, Eugen Dhimolea, Shakti H. Ramkissoon, Sheri L. Spunt, Erin R. Rudzinski, Charles Keller

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


CIC-rearranged sarcomas (CRSs) have recently been characterized as a distinct sarcoma subgroup with a less favorable prognosis compared to other small round cell sarcomas. CRSs share morphologic features with Ewing's sarcoma and prior to 2013 were grouped under undifferentiated sarcomas with round cell phenotype by the WHO classification. In this report, whole-genome sequencing and RNA sequencing were performed for an adolescent male patient with CRS who was diagnosed with undifferentiated pleomorphic sarcoma (UPS) by three contemporary institutions. Somatic mutation analysis identified mutations in IQGAP1, CCNC, and ATXN1L in pre- and post-treatment tissue samples, as well as a CIC-DUX4 fusion that was confirmed by qPCR and DUX4 immunohistochemistry. Of particular interest was the overexpression of the translation factor eEF1A1, which has oncogenic properties and has recently been identified as a target of the investigational agent plitidepsin. This case may provide a valuable waypoint in the understanding and classification of CRSs and may provide a rationale for targeting eEF1A1 in similar soft tissue sarcoma cases.

Original languageEnglish (US)
Article numbera004812
JournalCold Spring Harbor Molecular Case Studies
Issue number1
StatePublished - Feb 1 2020
Externally publishedYes


  • Ewing's sarcoma

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Undifferentiated small round cell sarcoma in a young male: A case report'. Together they form a unique fingerprint.

Cite this