Difference between revisions of "Sarcoma with CIC-rearrangement"

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'''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>
{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Image      =
| Width      =
| Caption    =
| Synonyms  =
| 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  = CIC rearrangement, e.g. t(4;19)(q35;q13.1) present; EWSR1 abnormality absent
| IF        =
| Gross      =
| Grossing  =
| Site      = [[soft tissue lesions|soft tissue]]
| Assdx      =
| Syndromes  =
| Clinicalhx = young (usually 20s), typically female
| Signs      =
| Symptoms  =
| Prevalence = very rare
| Bloodwork  =
| Rads      =
| Endoscopy  =
| Prognosis  = poor
| Other      =
| ClinDDx    = other [[soft tissue lesions|soft tissue tumours]]
| Tx        = wide excision (?)
}}
'''Sarcoma with CIC-rearrangement''' is a rare [[soft tissue]] tumour.<ref name=pmid28346326>{{Cite journal  | last1 = Antonescu | first1 = CR. | last2 = Owosho | first2 = AA. | last3 = Zhang | first3 = L. | last4 = Chen | first4 = S. | last5 = Deniz | first5 = K. | last6 = Huryn | first6 = JM. | last7 = Kao | first7 = YC. | last8 = Huang | first8 = SC. | last9 = Singer | first9 = S. | title = Sarcomas With CIC-rearrangements Are a Distinct Pathologic Entity With Aggressive Outcome: A Clinicopathologic and Molecular Study of 115 Cases. | journal = Am J Surg Pathol | volume = 41 | issue = 7 | pages = 941-949 | month = Jul | year = 2017 | doi = 10.1097/PAS.0000000000000846 | PMID = 28346326 }}</ref>


It is also known as '''CIC-DUX sarcoma'''. ''CIC-DUX'' is pronounced "six ducks"
It was previously known as '''undifferentiated small blue round cell sarcoma with t(4;19)'''<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> and '''CIC-DUX sarcoma''' (''CIC-DUX'' is pronounced "six ducks").<ref>{{Cite journal  | last1 = Antonescu | first1 = CR. | last2 = Owosho | first2 = AA. | last3 = Zhang | first3 = L. | last4 = Chen | first4 = S. | last5 = Deniz | first5 = K. | last6 = Huryn | first6 = JM. | last7 = Kao | first7 = YC. | last8 = Huang | first8 = SC. | last9 = Singer | first9 = S. | title = Sarcomas With CIC-rearrangements Are a Distinct Pathologic Entity With Aggressive Outcome: A Clinicopathologic and Molecular Study of 115 Cases. | journal = Am J Surg Pathol | volume = 41 | issue = 7 | pages = 941-949 | month = Jul | year = 2017 | doi = 10.1097/PAS.0000000000000846 | PMID = 28346326 }}</ref>


==General==
==General==
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**Patchy cytoplasmic clearing.
**Patchy cytoplasmic clearing.
**Necrosis.
**Necrosis.
**Irregular spacing of cells.
**+/-Big nucleoli.
<gallery>
File:CIC-DUX-sarcoma.jpg | CIC-DUX rearranged sarcoma in the CNS (WC/jensflorian)
</gallery>


DDx:
DDx:
*[[Ewing sarcoma]].
*[[Ewing sarcoma]] - has regular spacing of nuclei.
*Other [[Ewing-like tumours]].
*Other [[Ewing-like tumours]].
*[[Desmoplastic small round cell tumour]].
*[[Desmoplastic small round cell tumour]].
*Other [[small round cell tumours]].
*Other [[small round cell tumours]].
===Images===
*[https://www.nature.com/articles/modpathol201483/figures/1 CIC-DUX sarcoma - 1 (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 - 2 (nature.com)].<ref name=pmid24947144/>
*[https://www.nature.com/articles/modpathol201483/figures/2 Sarcoma with t(4;19) (nih.gov)].<ref name=pmid25683183>{{Cite journal  | last1 = Haidar | first1 = A. | last2 = Arekapudi | first2 = S. | last3 = DeMattia | first3 = F. | last4 = Abu-Isa | first4 = E. | last5 = Kraut | first5 = M. | title = 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. | journal = Am J Case Rep | volume = 16 | issue =  | pages = 87-94 | month =  | year = 2015 | doi = 10.12659/AJCR.892551 | PMID = 25683183 }}</ref>


==IHC==
==IHC==
*CD99 +ve/-ve
*[[CD99]] +ve patchy.
**Not strong and membranous.
**Not strong and membranous; [[Ewing sarcoma]] is diffuse.  
*WT-1 +ve.
*WT-1 +ve.
*S-100 -ve.
*S-100 -ve.
*Desmin =ve.
*Desmin -ve.
*Myogenin -ve.
*Myogenin -ve.
*ERG +ve.
*ERG +ve.
*FLI-1 +ve.
*FLI-1 +ve.
*CD56 +ve/-ve (5 +ve of 9<ref name=pmid28197724>{{cite journal |authors=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 |title=Histological and immunohistochemical characteristics of undifferentiated small round cell sarcomas associated with CIC-DUX4 and BCOR-CCNB3 fusion genes |journal=Virchows Arch |volume=470 |issue=4 |pages=373–380 |date=April 2017 |pmid=28197724 |doi=10.1007/s00428-017-2072-8 |url=}}</ref>).


==Molecular==
==Molecular==
*t(4;19)(q35;q13.1).<ref name=pmid22072439>{{Cite journal  | last1 = Italiano | first1 = A. | last2 = Sung | first2 = YS. | last3 = Zhang | first3 = L. | last4 = Singer | first4 = S. | last5 = Maki | first5 = RG. | last6 = Coindre | first6 = JM. | last7 = Antonescu | first7 = CR. | title = High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas. | journal = Genes Chromosomes Cancer | volume = 51 | issue = 3 | pages = 207-18 | month = Mar | year = 2012 | doi = 10.1002/gcc.20945 | PMID = 22072439 }}</ref>
*Rearrangement of CIC gene, e.g. t(4;19)(q35;q13.1); CIC-DUX4 fusion.<ref name=pmid22072439>{{Cite journal  | last1 = Italiano | first1 = A. | last2 = Sung | first2 = YS. | last3 = Zhang | first3 = L. | last4 = Singer | first4 = S. | last5 = Maki | first5 = RG. | last6 = Coindre | first6 = JM. | last7 = Antonescu | first7 = CR. | title = High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas. | journal = Genes Chromosomes Cancer | volume = 51 | issue = 3 | pages = 207-18 | month = Mar | year = 2012 | doi = 10.1002/gcc.20945 | PMID = 22072439 }}</ref>
**CIC-DUX4 fusion.
*EWSR1 FISH negative.
*EWSR1 FISH negative.


Latest revision as of 18:40, 17 February 2022

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:

  • CIC-DUX rearranged sarcoma in the CNS (WC/jensflorian)

DDx:

Images

IHC

  • CD99 +ve patchy.
  • WT-1 +ve.
  • S-100 -ve.
  • Desmin -ve.
  • Myogenin -ve.
  • ERG +ve.
  • FLI-1 +ve.
  • CD56 +ve/-ve (5 +ve of 9[6]).

Molecular

  • Rearrangement of CIC gene, e.g. t(4;19)(q35;q13.1); CIC-DUX4 fusion.[7]
  • EWSR1 FISH negative.

See also

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.
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