title: High-grade undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion: emerging entities of soft tissue tumors with unique histopathologic features--a case report and literature review.
abstract: BACKGROUND
  A subset of undifferentiated small round cell sarcomas (USRCSs) is currently being recognized as emerging entities with unique gene fusions: CIC-DUX4 (the area of focus in this article), BCOR-CCNB3, or CIC-FOXO4 gene fusions. CIC-DUX4 and CIC-FOXO4 fusions have been reported in soft tissue tumors, while BCOR-CCNB3 fusion with an X chromosomal inversion was described in both bone and soft tissue tumors. CIC-DUX4 fusion can either harbor t(4;19)(q35;q13.1) or t(10;19)(q26.3;q13), while t(4;19)(q35;q13.1) is reported more commonly.
  
  
  METHODS
  The aim of this study is to share a new case report of a 36-year-old woman who had a rapidly growing mass in her right upper thigh, which was found to be an undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion was confirmed by cytogenetic testing. Combined modality treatment with surgery, radiation, and chemotherapy was used and achieved a good response. A review of the literature of the reported cases with CIC-DUX4 fusions including both t(4;19) and t(10;19) translocations revealed a total of 44 cases reported. Out of these 44 cases, 33 showed t(4;19)(q35;q13.1) translocation compared to 11 cases with t(10;19)(q26.3;q13).
  
  
  CONCLUSIONS
  Undifferentiated small round cell sarcomas are aggressive tumors. Their treatment includes surgery, chemotherapy, and radiation. Resistance to chemotherapy is common. Lung and brain are common sites of metastasis, with associated poor prognosis. Generally, median survival is less than 2 years. Newer techniques have been developed recently which helped identify a subset of previously unclassifiable sarcomas, with promising prognostic value.
authors: Department of Internal Medicine, Providence Hospital and Medical Centers, Southfield, MI, USA.
authors: Abdallah
authors: A
authors: Haidar
authors: Division of Hematology and Oncology, Providence Hospital and Medical Centers, Southfield, MI, USA.
authors: Subramanyeswara
authors: S
authors: Arekapudi
authors: Department of Pathology, Providence Hospital and Medical Centers, Southfield, MI, USA.
authors: Frances
authors: F
authors: DeMattia
authors: Department of Radiation Oncology, University of Michigan, Ann Arbor, MI, USA.
authors: Eyad
authors: E
authors: Abu-Isa
authors: Department of Radiation Oncology, Providence Hospital and Medical Centers, Southfield, MI, USA.
authors: Michael
authors: M
authors: Kraut
mesh_terms: D000328:Adult; D002903:Chromosomes, Human, 19-20; D002905:Chromosomes, Human, 4-5; D005260:Female; D006801:Humans; D015514:Oncogene Proteins, Fusion / Q000502:physiology*; D018228:Sarcoma, Small Cell / Q000235:genetics* / Q000473:pathology*; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000473:pathology*; D013848:Thigh; D014178:Translocation, Genetic
chemical_list: C574694:CIC-DUX4 fusion protein, human; D015514:Oncogene Proteins, Fusion