Undifferentiated small round cell sarcoma with t(4;19)

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Undifferentiated small round cell sarcoma with t(4;19)
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

Clinical history young (usually 20s), typically female
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:

Images

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).[4]
    • 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. 2.0 2.1 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.
  3. 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.
  4. 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.