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

• DOI: 10.1101/mcs.a004812
• Publication Date: 2020-02-03T19:45:18Z
• Authors: 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
• Keywords: Male; Oncogene Proteins, Fusion; Whole Genome Sequencing; Biopsy; Chromosome Mapping; Computational Biology; Gene Expression; Genomics; Immunohistochemistry; Magnetic Resonance Imaging; Translocation, Genetic; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; HLA Antigens; Sarcoma, Small Cell; Biomarkers, Tumor; Humans; Neoplasm Grading; Symptom Assessment; Child; Alleles; Research Article

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