Sarcoma with CIC-rearrangement
Revision as of 13:22, 25 March 2015 by Michael (talk | contribs) (Michael moved page Undifferentiated small blue round cell sarcoma with t(4;19) to Undifferentiated small round cell sarcoma with t(4;19): remove blue)
| Sarcoma with CIC-rearrangement | |
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| Diagnosis in short | |
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| Synonyms | CIC-DUX sarcoma |
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| 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 |
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| 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:
- Small round cell tumour.
- Patchy cytoplasmic clearing.
- Necrosis.
DDx:
- Ewing sarcoma.
- Other Ewing-like tumours.
- Desmoplastic small round cell tumour.
- Other small round cell tumours.
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
- ↑ 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.
- ↑ 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.