Sarcoma with CIC-rearrangement

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Sarcoma with CIC-rearrangement
Diagnosis in short

Synonyms CIC-DUX sarcoma

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 t(4;19)(q35;q13.1) present, EWSR1 abnormality absent
Site soft tissue

Prevalence very rare
Prognosis poor
Clin. DDx other soft tissue tumours
Treatment wide excision (?)

Undifferentiated small blue round cell sarcoma with t(4;19), is a rare malignant small round cell tumour.[1]

It is also known as CIC-DUX sarcoma. CIC-DUX is pronounced "six ducks"

General

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

Microscopic

Features:

DDx:

IHC

  • CD99 +ve/-ve
    • Not strong and membranous.
  • WT-1 +ve.
  • S-100 -ve.
  • Desmin -ve.
  • Myogenin -ve.
  • ERG +ve.
  • FLI-1 +ve.

Molecular

  • t(4;19)(q35;q13.1).[2]
    • CIC-DUX4 fusion.
  • EWSR1 FISH negative.

See also

References

  1. 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.
  2. 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.