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CIC-DUX4

Tuesday 1 November 2016

DUX4-CIC

Molecular biology

- CIC-DUX4 gene fusion in Ewing-like sarcoma

  • Ewing-like sarcomas with t(4;19)(q35;q13)
  • Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation.
  • fusion gene between DUX4 at 4q35 (MIM.606009) and CIC at 19q35 by t(4;19)(q35;q13) (16717057)
  • CIC, a human homolog of Drosophila capicua which encodes a high mobility group box transcription factor, is fused to a double homeodomain gene DUX4 as a result of a recurrent chromosomal translocation t(4;19)(q35;q13).

- CIC-DUX4 gen fusion in primary undifferentiated sarcoma of the kidney (27340751)

IHC

- DUX4 immunostaining distinguishes CIC-DUX4 tumors from other round cell mimics. Recommended use when CIC-DUX4 fusion-positive round cell tumor enters the histologic differential diagnosis. (27879517)

Paywall references

- DUX4 Immunohistochemistry is a Highly Sensitive and Specific Marker for CIC-DUX4 Fusion-positive Round Cell Tumor. Siegele B, Roberts J, Black JO, Rudzinski E, Vargas SO, Galambos C. Am J Surg Pathol. 2016 Nov 22. PMID: 27879517