Sarcoma with CIC-rearrangement
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Sarcoma with CIC-rearrangement is a rare soft tissue tumour.[1]
| 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 (?) |
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
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.
- EMA -ve/+ve (7 +ve of 16[6]).
Molecular
- Rearrangement of CIC gene, e.g. t(4;19)(q35;q13.1); CIC-DUX4 fusion.[7]
- 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.
- ↑ Yamada Y, Kuda M, Kohashi K, Yamamoto H, Takemoto J, Ishii T, Iura K, Maekawa A, Bekki H, Ito T, Otsuka H, Kuroda M, Honda Y, Sumiyoshi S, Inoue T, Kinoshita N, Nishida A, Yamashita K, Ito I, Komune S, Taguchi T, Iwamoto Y, Oda Y (April 2017). "Histological and immunohistochemical characteristics of undifferentiated small round cell sarcomas associated with CIC-DUX4 and BCOR-CCNB3 fusion genes". Virchows Arch 470 (4): 373–380. doi:10.1007/s00428-017-2072-8. PMID 28197724.
- ↑ 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.