Difference between revisions of "Sarcoma with CIC-rearrangement"

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Sarcoma with CIC-rearrangement (view source)

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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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'''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>
'''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 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") 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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===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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==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.


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