Sarcoma with CIC-rearrangement

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Sarcoma with CIC-rearrangement
Diagnosis in short

LM small round blue cell tumour with focal cytoplasmic clearing +/-zonal necrosis
LM DDx Ewing sarcoma, other Ewing-like tumours, DSRCT, other small round cell tumours
IHC WT-1 +ve, CD99 +ve/-ve (not strong membranous), ERG +ve, FLI-1 +ve
Molecular CIC rearrangement, e.g. t(4;19)(q35;q13.1) present; EWSR1 abnormality absent
Site soft tissue

Clinical history young (usually 20s), typically female
Prevalence very rare
Prognosis poor
Clin. DDx other soft tissue tumours
Treatment wide excision (?)

Sarcoma with CIC-rearrangement is a rare soft tissue tumour.[1]

It was previously known as undifferentiated small blue round cell sarcoma with t(4;19)[2] and CIC-DUX sarcoma (CIC-DUX is pronounced "six ducks").[3]

General

  • Rare.
  • Young - typically 20s.
  • Female>male.
  • Aggressive course.

Microscopic

Features:

DDx:

Images

IHC

  • CD99 +ve patchy.
  • WT-1 +ve.
  • S-100 -ve.
  • Desmin -ve.
  • Myogenin -ve.
  • ERG +ve.
  • FLI-1 +ve.

Molecular

  • Rearrangement of CIC gene, e.g. t(4;19)(q35;q13.1); CIC-DUX4 fusion.[6]
  • EWSR1 FISH negative.

See also

References

  1. Antonescu, CR.; Owosho, AA.; Zhang, L.; Chen, S.; Deniz, K.; Huryn, JM.; Kao, YC.; Huang, SC. et al. (Jul 2017). "Sarcomas With CIC-rearrangements Are a Distinct Pathologic Entity With Aggressive Outcome: A Clinicopathologic and Molecular Study of 115 Cases.". Am J Surg Pathol 41 (7): 941-949. doi:10.1097/PAS.0000000000000846. PMID 28346326.
  2. Choi, EY.; Thomas, DG.; McHugh, JB.; Patel, RM.; Roulston, D.; Schuetze, SM.; Chugh, R.; Biermann, JS. et al. (Sep 2013). "Undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion: a novel highly aggressive soft tissue tumor with distinctive histopathology.". Am J Surg Pathol 37 (9): 1379-86. doi:10.1097/PAS.0b013e318297a57d. PMID 23887164.
  3. Antonescu, CR.; Owosho, AA.; Zhang, L.; Chen, S.; Deniz, K.; Huryn, JM.; Kao, YC.; Huang, SC. et al. (Jul 2017). "Sarcomas With CIC-rearrangements Are a Distinct Pathologic Entity With Aggressive Outcome: A Clinicopathologic and Molecular Study of 115 Cases.". Am J Surg Pathol 41 (7): 941-949. doi:10.1097/PAS.0000000000000846. PMID 28346326.
  4. 4.0 4.1 Smith, SC.; Buehler, D.; Choi, EY.; McHugh, JB.; Rubin, BP.; Billings, SD.; Balzer, B.; Thomas, DG. et al. (Jan 2015). "CIC-DUX sarcomas demonstrate frequent MYC amplification and ETS-family transcription factor expression.". Mod Pathol 28 (1): 57-68. doi:10.1038/modpathol.2014.83. PMID 24947144.
  5. Haidar, A.; Arekapudi, S.; DeMattia, F.; Abu-Isa, E.; Kraut, M. (2015). "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.". Am J Case Rep 16: 87-94. doi:10.12659/AJCR.892551. PMID 25683183.
  6. Italiano, A.; Sung, YS.; Zhang, L.; Singer, S.; Maki, RG.; Coindre, JM.; Antonescu, CR. (Mar 2012). "High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas.". Genes Chromosomes Cancer 51 (3): 207-18. doi:10.1002/gcc.20945. PMID 22072439.