Skip to main content
Log in

Clear cell sarcoma of the ileum: report of a case and review of literature

  • Case Report
  • Published:
Virchows Archiv Aims and scope Submit manuscript

Abstract

Clear cell sarcoma (CCS) is a high grade soft tissue sarcoma with a distinct molecular profile and with morphological features resembling those of melanoma. CCS has been rarely described in other locations other than the soft tissues, including the gastrointestinal tract. In this study, we report a case of CCS arising in the ileum of a 31-year-old woman. Histologically, the tumor involved the entire thickness of the intestinal wall. Tumor cells were polygonal or fusiform, with clear or eosinophilic cytoplasm, arranged in a uniform nested to fascicular growth pattern. Immunohistochemical studies revealed strong positivity for vimentin and S-100 protein. HMB-45, Melan-A, tyrosinase, cytokeratins, EMA, smooth muscle actin, CD34, CD31, CD117, CD99, synaptophysin, chromogranin A, CD56, and NSE were negative. Fluorescence in situ hybridization analysis demonstrated the presence of a t(12;22)(q13;q12) translocation, the diagnostic hallmark of CCS of soft parts. The present case, together with a detailed review of the literature on this topic, demonstrates that the gastrointestinal tract is a possible site of CCS of soft tissues and that making a reliable diagnosis of this tumor requires cytogenetic or molecular diagnostic investigations.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  1. Achten R, Debiec-Rychter M, De Wever I, Sciot R (2005) An unusual case of clear cell sarcoma arising in the jejunum highlights the diagnostic value of molecular genetic techniques in establishing a correct diagnosis. Histopathology 46:472–473

    Article  PubMed  CAS  Google Scholar 

  2. Antonescu CR, Nafa K, Segal NH, Dal Cin P, Ladanyi M (2006) EWS-CREB1: a recurrent variant fusion in clear cell sarcoma. Association with gastrointestinal location and absence of melanocytic differentiation. Clin Cancer Res 12:5356–5362

    Article  PubMed  CAS  Google Scholar 

  3. Bury T, Hermans G, Alexis-Agnant R, Chevalier P, Limet R, Bartsch P (1997) Clear cell sarcoma: an extremely rare cause of pleural disease. Eur Respir J 10:2653–2656

    Article  PubMed  CAS  Google Scholar 

  4. Covinsky M, Gong S, Rajaram V, Perry A, Pfeifer J (2005) EWS-ATF1 fusion transcripts in gastrointestinal tumors previously diagnosed as malignant melanoma. Human Pathol 36:74–81

    Article  CAS  Google Scholar 

  5. Donner LR, Trompler RA, Dobin S (1998) Clear cell sarcoma of the ileum. The crucial role of cytogenetics for the diagnosis. Am J Surg Pathol 22:121–124

    Article  PubMed  CAS  Google Scholar 

  6. Ekfors TO, Kujari H, Isomäki M (1993) Clear cell sarcoma of tendons and aponeuroses (malignant melanoma of soft parts) in the duodenum: the first visceral case. Histopathology 22:255–259

    Article  PubMed  CAS  Google Scholar 

  7. Enzinger FM (1965) Clear cell sarcoma of tendons and aponeuroses. An analysis of 21 cases. Cancer 18:1163–1174

    Article  PubMed  CAS  Google Scholar 

  8. Fletcher CDM, Unni KK, Mertens F (ed) (2002) World Health Organization Classification of Tumors. Pathology and genetics. Tumors of soft tissue and bones. IARC Press, Lyon

  9. Friedrichs N, Testi MA, Moiraghi L, Modena P, Paggen E, Plötner A, Wiechmann V, Mantovani-Löffler L, Merkelbach-Bruse S, Buettner R, Wardelmann E (2005) Clear cell sarcoma-like tumor with osteoclast-like giant cells in the small bowel: further evidence for a new tumor entity. Int J Surg Pathol 13:313–318

    Article  PubMed  Google Scholar 

  10. Fukuda T, Kakihara T, Baba K, Yamaki T, Yamaguchi T, Suzuki T (2000) Clear cell sarcoma arising in the transverse colon. Pathol Int 50:412–416

    Article  PubMed  CAS  Google Scholar 

  11. Garcia JJ, Kramer MJ, Mackey ZB, O’Donnell RJ, Horvai AE (2006) Utility of CD117 immunoreactivity in differentiating metastatic melanoma from clear cell sarcoma. Arch Pathol Lab Med 130:343–348

    PubMed  CAS  Google Scholar 

  12. Genevay M, Mc Kee T, Zimmer G, Cathomas G, Guillou L (2004) Digestive PEComas: a solution when the diagnosis fails to “fit”. Ann Diagn Pathol 8:367–372

    Article  PubMed  Google Scholar 

  13. Granville L, Hicks J, Popek E, Dishop M, Tatevian N, Lopez-Terrada D (2006) Visceral clear cell sarcoma of soft tissue with confirmation by EWS-ATF1 fusion detection. Ultrastruct Pathol 30:111–118

    Article  PubMed  Google Scholar 

  14. Hallor KH, Mertens F, Jin Y, Meis-Kindblom JM, Kindblom LG, Behrendtz M, Kalén A, Mandahl N, Panagopoulos I (2005) Fusion of the EWSR1 and ATF1 genes without expression of the MITF-M transcript in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer 44:97–102

    Article  PubMed  CAS  Google Scholar 

  15. Hallor KH, Micci F, Meis-Kindblom JM, Kindblom LG, Bacchini P, Mandahl N, Mertens F, Panagopoulos I (2007) Fusion genes in angiomatoid fibrous histiocytoma. Cancer Lett 251(1):158–163

    Article  PubMed  CAS  Google Scholar 

  16. Hersekli MA, Ozkoc G, Bircan S, Akpinar S, Ozalay M, Tuncer I, Tandogan RN (2005) Primary clear cell sarcoma of rib. Skelet Radiol 34:167–170

    Article  Google Scholar 

  17. Huang W, Zhang X, Li D, Chen J, Meng K, Wang Y, Lu Z, Zhou X (2006) Osteoclast-rich tumor of the gastrointestinal tract with features resembling those of clear cell sarcoma of soft parts. Virchows Arch 448:200–203

    Article  PubMed  Google Scholar 

  18. Kataoka Y, Shimada H, Sugimoto T, Mine H, Hachitanda J, Doi J, Sawada T, Weeks DA (1993) Congenital sarcoma in the terminal ileum histologically resembling clear cell sarcoma of the kidney. A case report with an immunohistochemical study. Human Pathol 24:1026–1030

    Article  CAS  Google Scholar 

  19. Kindblom LG, Lodding P, Angervall L (1983) Clear cell sarcoma of tendons and aponeuroses. Virchows Arch (A) 401:109–128

    Article  CAS  Google Scholar 

  20. MhannaT, Ranchere-Vince D, Hervieu V, Tardieu D, Scoazec JY, Partensky C (2005) Clear cell myomelanocytic tumor (PEComa) of the duodenum in a child with a history of neuroblastoma. Arch Pathol Lab Med 129:1484–1486

    PubMed  Google Scholar 

  21. Panagopoulos I, Mertens F, Isaksson M, Mandahl N (2005) Absence of mutations of the BRAF gene in malignant melanoma of soft parts (clear cell sarcoma of tendons and aponeuroses). Cancer Genet Cytogenet 156:74–76

    Article  PubMed  CAS  Google Scholar 

  22. Pauwels P, Debiec-Rychter M, Sciot R, Vlasveld T, den Butter B, Hagemeijer A, Hogendoorn PCW (2002) Clear cell sarcoma of the stomach. Histopathology 41:526–530

    Article  PubMed  CAS  Google Scholar 

  23. Rosai J (2005) Clear cell sarcoma and osteoclast-rich clear cell sarcoma-like tumor of the gastrointestinal tract: one tumor type or two? Melanoma or sarcoma? Int J Surg Pathol 13:309–311

    Article  PubMed  Google Scholar 

  24. Rubin BP, Fletcher JA, Renshaw AA (1999) Clear cell sarcoma of soft parts: report of a case primary in the kidney with cytogenetic confirmation. Am J Surg Pathol 23:589–594

    Article  PubMed  CAS  Google Scholar 

  25. Saw D, Tse CH, Chan J, Watt CY, Ng CS, Poon YF (1986) Clear cell sarcoma of the penis. Human Pathol 17:423–425

    Article  CAS  Google Scholar 

  26. Segal NH, Pavlidis P, Noble WS, Antonescu CR, Viale A, Wesley UV, Busam K, Gallardo H, DeSantis D, Brennan MF, Cordon-Cardo C, Wolchok JD, Houghton AN (2003) Classification of clear cell sarcoma as a subtype of melanoma by genomic profiling. J Clin Oncol 21:1775–1781

    Article  PubMed  CAS  Google Scholar 

  27. Taminelli L, Zaman K, Gengler C, Peloponissios N, Bouzourene H, Coindre J-M, Hostein I, Guillou L (2005) Primary clear cell sarcoma of the ileum: an uncommon and misleading site. Virchows Arch 447:772–777

    Article  PubMed  Google Scholar 

  28. Venkataraman G, Quinn AM, Williams J, Hammadeh R (2005) Clear cell sarcoma of the small bowel: a potential pitfall. APMIS 113:716–719

    Article  PubMed  Google Scholar 

  29. Zambrano E, Reyes-Mugica M, Franchi A, Rosai J (2003) An osteoclast-rich tumor of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts: reports of 6 cases of a GIST simulator. Int J Surg Pathol 11:75–81

    Article  PubMed  Google Scholar 

  30. Zucman J, Delattre O, Desmaze C, Epstein AL, Stenman G, Speleman F, Fletchers CD, Aurias A, Thomas G (1993) EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts. Nat Genet 4:341–345

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Camilla E. Comin.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Comin, C.E., Novelli, L., Tornaboni, D. et al. Clear cell sarcoma of the ileum: report of a case and review of literature. Virchows Arch 451, 839–845 (2007). https://doi.org/10.1007/s00428-007-0454-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00428-007-0454-z

Keywords

Navigation