Difference between revisions of "Sarcoma with CIC-rearrangement"

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Sarcoma with CIC-rearrangement (view source)

Revision as of 18:40, 17 February 2022

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| Width      =
| Width      =
| Caption    =  
| Caption    =  
| Synonyms  = CIC-DUX sarcoma
| Synonyms  =  
| Micro      = [[small round blue cell tumour]] with focal cytoplasmic clearing +/-zonal necrosis
| Micro      = [[small round blue cell tumour]] with focal cytoplasmic clearing +/-zonal necrosis
| Subtypes  =
| Subtypes  =
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| IHC        = WT-1 +ve, CD99 +ve/-ve (not strong membranous), ERG +ve, FLI-1 +ve
| IHC        = WT-1 +ve, CD99 +ve/-ve (not strong membranous), ERG +ve, FLI-1 +ve
| EM        =
| EM        =
| Molecular  = t(4;19)(q35;q13.1) present, EWSR1 abnormality absent
| Molecular  = CIC rearrangement, e.g. t(4;19)(q35;q13.1) present; EWSR1 abnormality absent
| IF        =
| IF        =
| Gross      =
| Gross      =
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| Tx        = wide excision (?)
| 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>
'''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") and '''CIC sarcoma'''.<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>
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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**Irregular spacing of cells.
**Irregular spacing of cells.
**+/-Big nucleoli.
**+/-Big nucleoli.
<gallery>
File:CIC-DUX-sarcoma.jpg | CIC-DUX rearranged sarcoma in the CNS (WC/jensflorian)
</gallery>


DDx:
DDx:
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===Images===
===Images===
*[http://www.nature.com/modpathol/journal/v28/n1/fig_tab/modpathol201483f1.html 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>
*[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/>
*[http://www.nature.com/modpathol/journal/v28/n1/fig_tab/modpathol201483f2.html CIC-DUX sarcoma - 2 (nature.com)].<ref name=pmid24947144/>
*[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338805/figure/f2-amjcaserep-16-87/ 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>
*[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==
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*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.


Michael
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