Difference between revisions of "Sarcoma with CIC-rearrangement"
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File:CIC-DUX-sarcoma.jpg | CIC-DUX rearranged sarcoma in the CNS (WC/jensflorian) | |||
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Revision as of 11:19, 28 October 2020
| 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:
- Small round cell tumour.
- Patchy cytoplasmic clearing.
- Necrosis.
- Irregular spacing of cells.
- +/-Big nucleoli.
CIC-DUX rearranged sarcoma in the CNS (WC/jensflorian)
DDx:
- Ewing sarcoma - has regular spacing of nuclei.
- Other Ewing-like tumours.
- Desmoplastic small round cell tumour.
- Other small round cell tumours.
Images
- CIC-DUX sarcoma - 1 (nature.com).[4]
- CIC-DUX sarcoma - 2 (nature.com).[4]
- Sarcoma with t(4;19) (nih.gov).[5]
IHC
- CD99 +ve patchy.
- Not strong and membranous; Ewing sarcoma is diffuse.
- 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
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 4.0 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.
- ↑ 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.
- ↑ 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.