Virchows Archiv

, Volume 474, Issue 2, pp 253–257 | Cite as

CIC fusion-positive sarcoma of the spermatic cord

  • Felix BremmerEmail author
  • Alexander Fichtner
  • Ralph Triefenbach
  • Reinhard Inniger
  • Peter Mayer
  • Laura Lukat
  • Philipp Ströbel
  • Hans Ulrich Schildhaus
Brief Report


In addition to germ cell tumors and tumors of the sex cord stroma, the WHO classification of testis and paratesticular tumors also contains malignant soft tissue tumors. Among them, liposarcomas of the spermatic cord are the most common entities. Other mesenchymal tumors with smooth muscle, skeletal muscle, fibroblastic/myofibroblastic, or nerve sheath differentiation are rare. Ewing sarcoma is composed of uniform small round cells and typically characterized by translocations of the EWSR1 gene. In rare cases, Ewing sarcoma-like tumors lack an EWSR1 gene fusion. Some of these tumors harbor a specific CIC translocation. However, Ewing-like sarcoma has up to now never been described in the testis or spermatic cord. The present case describes the first EWSR1-negative, undifferentiated round cell sarcoma with CIC translocation of the spermatic cord. Potential differential diagnoses are discussed.


CIC translocation Spermatic cord Testis Ewing-like sarcoma 


Author contributions

F.B. A.F., and P.S. were responsible design of the study, interpretation of the results, and writing the manuscript. L.L. and H.U.S. were responsible for FISH experiments. R.T., A.F., R.I. and F.B. contributed critical discussion of the experiments and results. F.B., A.F., P.S., and H.U.S. reviewed the manuscript.


FB is supported by the Wilhelm-Sander-Stiftung (2016.041.1).

Compliance with ethical standards

The case report was approved by the ethics committee of the University Medical Center Göttingen (applicant number: 7/2/18An). The patient gave his formal consent to the publication of the data.

Conflict of interest

The authors declare that they have no conflict of interest.


  1. 1.
    Fletcher CDM, Folpe AL, Hornick JL (2016) Mesenchymal tumours of the spermatic cord and testicular adnexa. WHO classification of Tumours of the urinary system and male genital organs. IARC, LyonGoogle Scholar
  2. 2.
    Ulbright T, Young R. Tumors of the testis and adjacent structures. AFIP atlas of tumor pathology vol 4. Silver Spring: American Registry of Pathology; 2013Google Scholar
  3. 3.
    Cummings OW, Ulbright TM, Young RH, Dei Tos AP, Fletcher CD, Hull MT (1997) Desmoplastic small round cell tumors of the paratesticular region. A report of six cases. Am J Surg Pathol 21(2):219–225CrossRefGoogle Scholar
  4. 4.
    Khoury JD (2005) Ewing sarcoma family of tumors. Adv Anat Pathol 12(4):212–220CrossRefGoogle Scholar
  5. 5.
    de Alava E, Pardo J (2001) Ewing tumor: tumor biology and clinical applications. Int J Surg Pathol 9(1):7–17. CrossRefGoogle Scholar
  6. 6.
    Antonescu CR, Owosho AA, Zhang L, Chen S, Deniz K, Huryn JM, Kao YC, Huang SC, Singer S, Tap W, Schaefer IM, Fletcher CD (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. CrossRefGoogle Scholar
  7. 7.
    Machado I, Cruz J, Lavernia J, Rubio L, Campos J, Barrios M et al. Superficial EWSR1-negative undifferentiated small round cell sarcoma with CIC/DUX4 gene fusion: a new variant of Ewing-like tumors with locoregional lymph node metastasis. Virchows Arch : an international journal of pathology. 2013;463(6):837–842. doi:
  8. 8.
    Kawamura-Saito M, Yamazaki Y, Kaneko K, Kawaguchi N, Kanda H, Mukai H, Gotoh T, Motoi T, Fukayama M, Aburatani H, Takizawa T, Nakamura T (2006) Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation. Hum Mol Genet 15(13):2125–2137. CrossRefGoogle Scholar
  9. 9.
    Specht K, Sung YS, Zhang L, Richter GH, Fletcher CD, Antonescu CR (2014) Distinct transcriptional signature and immunoprofile of CIC-DUX4 fusion-positive round cell tumors compared to EWSR1-rearranged Ewing sarcomas: further evidence toward distinct pathologic entities. Genes, Chromosomes Cancer 53(7):622–633. CrossRefGoogle Scholar
  10. 10.
    de Alava E, Lessnick SL, Sorensen PH (2012) Ewing sarcoma. WHO classification of tumours of soft tissue and bone. IARC, LyonGoogle Scholar
  11. 11.
    Folpe AL, Goldblum JR, Rubin BP, Shehata BM, Liu W, Dei Tos AP et al (2005) Morphologic and immunophenotypic diversity in Ewing family tumors: a study of 66 genetically confirmed cases. Am J Surg Pathol 29(8):1025–1033Google Scholar
  12. 12.
    Graham C, Chilton-MacNeill S, Zielenska M, Somers GR (2012) The CIC-DUX4 fusion transcript is present in a subgroup of pediatric primitive round cell sarcomas. Hum Pathol 43(2):180–189. CrossRefGoogle Scholar
  13. 13.
    Yoshimoto M, Graham C, Chilton-MacNeill S, Lee E, Shago M, Squire J, Zielenska M, Somers GR (2009) Detailed cytogenetic and array analysis of pediatric primitive sarcomas reveals a recurrent CIC-DUX4 fusion gene event. Cancer Genet Cytogenet 195(1):1–11. CrossRefGoogle Scholar
  14. 14.
    Italiano A, Sung YS, Zhang L, Singer S, Maki RG, Coindre JM, Antonescu CR (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):207–218. CrossRefGoogle Scholar
  15. 15.
    Goldblum JR, Weiss SW, Folpe AL. Enzinger and Weiss’s soft tissue tumors. 6th Edition ed. Saunders; 2014Google Scholar
  16. 16.
    Tsukamoto Y, Futani H, Yoshiya S, Watanabe T, Kihara T, Matsuo S, Hirota S (2017) Primary undifferentiated small round cell sarcoma of the deep abdominal wall with a novel variant of t(10;19) CIC-DUX4 gene fusion. Pathol Res Pract 213(10):1315–1321. CrossRefGoogle Scholar
  17. 17.
    Loke BN, Lee VKM, Sudhanshi J, Wong MK, Kuick CH, Puhaindran M, Chang KTE (2017) Novel exon-exon breakpoint in CIC-DUX4 fusion sarcoma identified by anchored multiplex PCR (Archer FusionPlex sarcoma panel). J Clin Pathol 70(8):697–701. CrossRefGoogle Scholar
  18. 18.
    Tardio JC, Machado I, Navarro L, Idrovo F, Sanz-Ortega J, Pellin A et al (2015) Ewing-like sarcoma with CIC-DUX4 gene fusion in a patient with neurofibromatosis type 1. A hitherto unreported association. Pathol Res Pract 211(11):877–882. CrossRefGoogle Scholar
  19. 19.
    Owosho AA, Estilo CL, Huryn JM, Zhang L, Fletcher CDM, Antonescu CR (2017) Head and neck round cell sarcomas: a comparative clinicopathologic analysis of 2 molecular subsets: Ewing and CIC-rearranged sarcomas. Head Neck Pathol 11(4):450–459. CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Felix Bremmer
    • 1
    Email author
  • Alexander Fichtner
    • 1
  • Ralph Triefenbach
    • 2
  • Reinhard Inniger
    • 2
  • Peter Mayer
    • 3
  • Laura Lukat
    • 1
  • Philipp Ströbel
    • 1
  • Hans Ulrich Schildhaus
    • 1
  1. 1.Institute of PathologyUniversity Medical Center GöttingenGöttingenGermany
  2. 2.Center for Pathology, Cytology and Molecular PathologyDüsseldorfGermany
  3. 3.Department of UrologyCatholic Clinics OberbergEngelskirchenGermany

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