Difference between revisions of "Sarcoma with CIC-rearrangement"
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{{ Infobox diagnosis | |||
| Name = {{PAGENAME}} | |||
| Image = | |||
| Width = | |||
| Caption = | |||
| Synonyms = CIC-DUX sarcoma | |||
| Micro = [[small round blue cell tumour]] with focal cytoplasmic clearing +/-zonal necrosis | |||
| Subtypes = | |||
| LMDDx = [[Ewing sarcoma]], other [[Ewing-like tumours]], [[DSRCT]], other [[small round cell tumours]] | |||
| Stains = | |||
| IHC = WT-1 +ve, CD99 +ve/-ve (not strong membranous), ERG +ve, FLI-1 +ve | |||
| EM = | |||
| Molecular = t(4;19)(q35;q13.1) present, EWSR1 abnormality absent | |||
| IF = | |||
| Gross = | |||
| Grossing = | |||
| Site = [[soft tissue lesions|soft tissue]] | |||
| Assdx = | |||
| Syndromes = | |||
| Clinicalhx = | |||
| Signs = | |||
| Symptoms = | |||
| Prevalence = very rare | |||
| Bloodwork = | |||
| Rads = | |||
| Endoscopy = | |||
| Prognosis = poor | |||
| Other = | |||
| ClinDDx = other [[soft tissue lesions|soft tissue tumours]] | |||
| Tx = wide excision (?) | |||
}} | |||
'''Undifferentiated small blue round cell sarcoma with t(4;19)''', is a rare [[malignant]] [[small round cell tumour]].<ref name=pmid23887164>{{Cite journal | last1 = Choi | first1 = EY. | last2 = Thomas | first2 = DG. | last3 = McHugh | first3 = JB. | last4 = Patel | first4 = RM. | last5 = Roulston | first5 = D. | last6 = Schuetze | first6 = SM. | last7 = Chugh | first7 = R. | last8 = Biermann | first8 = JS. | last9 = Lucas | first9 = DR. | title = 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. | journal = Am J Surg Pathol | volume = 37 | issue = 9 | pages = 1379-86 | month = Sep | year = 2013 | doi = 10.1097/PAS.0b013e318297a57d | PMID = 23887164 }}</ref> | '''Undifferentiated small blue round cell sarcoma with t(4;19)''', is a rare [[malignant]] [[small round cell tumour]].<ref name=pmid23887164>{{Cite journal | last1 = Choi | first1 = EY. | last2 = Thomas | first2 = DG. | last3 = McHugh | first3 = JB. | last4 = Patel | first4 = RM. | last5 = Roulston | first5 = D. | last6 = Schuetze | first6 = SM. | last7 = Chugh | first7 = R. | last8 = Biermann | first8 = JS. | last9 = Lucas | first9 = DR. | title = 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. | journal = Am J Surg Pathol | volume = 37 | issue = 9 | pages = 1379-86 | month = Sep | year = 2013 | doi = 10.1097/PAS.0b013e318297a57d | PMID = 23887164 }}</ref> | ||
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*WT-1 +ve. | *WT-1 +ve. | ||
*S-100 -ve. | *S-100 -ve. | ||
*Desmin | *Desmin -ve. | ||
*Myogenin -ve. | *Myogenin -ve. | ||
*ERG +ve. | *ERG +ve. | ||
Revision as of 13:14, 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.
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.