Difference between revisions of "Sarcoma with CIC-rearrangement"
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===Images=== | ===Images=== | ||
*.<ref name=pmid24947144>{{Cite journal | last1 = Smith | first1 = SC. | last2 = Buehler | first2 = D. | last3 = Choi | first3 = EY. | last4 = McHugh | first4 = JB. | last5 = Rubin | first5 = BP. | last6 = Billings | first6 = SD. | last7 = Balzer | first7 = B. | last8 = Thomas | first8 = DG. | last9 = Lucas | first9 = DR. | title = CIC-DUX sarcomas demonstrate frequent MYC amplification and ETS-family transcription factor expression. | journal = Mod Pathol | volume = 28 | issue = 1 | pages = 57-68 | month = Jan | year = 2015 | doi = 10.1038/modpathol.2014.83 | PMID = 24947144 }}</ref> | *[http://www.nature.com/modpathol/journal/v28/n1/fig_tab/modpathol201483f1.html CIC-DUX sarcoma (nature.com)].<ref name=pmid24947144>{{Cite journal | last1 = Smith | first1 = SC. | last2 = Buehler | first2 = D. | last3 = Choi | first3 = EY. | last4 = McHugh | first4 = JB. | last5 = Rubin | first5 = BP. | last6 = Billings | first6 = SD. | last7 = Balzer | first7 = B. | last8 = Thomas | first8 = DG. | last9 = Lucas | first9 = DR. | title = CIC-DUX sarcomas demonstrate frequent MYC amplification and ETS-family transcription factor expression. | journal = Mod Pathol | volume = 28 | issue = 1 | pages = 57-68 | month = Jan | year = 2015 | doi = 10.1038/modpathol.2014.83 | PMID = 24947144 }}</ref> | ||
*[http://www.nature.com/modpathol/journal/v28/n1/fig_tab/modpathol201483f2.html CIC-DUX sarcoma (nature.com)].<ref name=pmid24947144/> | |||
==IHC== | ==IHC== | ||
Revision as of 13:34, 25 March 2015
| 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:
- 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.
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).[3]
- 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.
- ↑ 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.
- ↑ 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.