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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
, 18:40, 17 February 2022→IHC
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| Width = | | Width = | ||
| Caption = | | Caption = | ||
| Synonyms = | | 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 = | ||
| Line 11: | Line 11: | ||
| 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 | | Molecular = CIC rearrangement, e.g. t(4;19)(q35;q13.1) present; EWSR1 abnormality absent | ||
| IF = | | IF = | ||
| Gross = | | Gross = | ||
| Line 18: | Line 18: | ||
| Assdx = | | Assdx = | ||
| Syndromes = | | Syndromes = | ||
| Clinicalhx = | | Clinicalhx = young (usually 20s), typically female | ||
| Signs = | | Signs = | ||
| Symptoms = | | Symptoms = | ||
| Line 30: | Line 30: | ||
| Tx = wide excision (?) | | 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 | 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== | ||
| Line 45: | Line 45: | ||
**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 | *[[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. | ||
| Line 61: | Line 72: | ||
*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> | ||
*EWSR1 FISH negative. | *EWSR1 FISH negative. | ||