Virchows Archiv

, Volume 451, Issue 4, pp 839–845 | Cite as

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

  • Camilla E. Comin
  • Luca Novelli
  • Daniela Tornaboni
  • Luca Messerini
Case Report


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.


Clear cell sarcoma Gastrointestinal tract Immunohistochemistry FISH 


  1. 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 46:472–473PubMedCrossRefGoogle Scholar
  2. 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 12:5356–5362PubMedCrossRefGoogle Scholar
  3. 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 10:2653–2656PubMedCrossRefGoogle Scholar
  4. 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 36:74–81CrossRefGoogle Scholar
  5. 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 22:121–124PubMedCrossRefGoogle Scholar
  6. 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 22:255–259PubMedCrossRefGoogle Scholar
  7. 7.
    Enzinger FM (1965) Clear cell sarcoma of tendons and aponeuroses. An analysis of 21 cases. Cancer 18:1163–1174PubMedCrossRefGoogle Scholar
  8. 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, LyonGoogle Scholar
  9. 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 13:313–318PubMedCrossRefGoogle Scholar
  10. 10.
    Fukuda T, Kakihara T, Baba K, Yamaki T, Yamaguchi T, Suzuki T (2000) Clear cell sarcoma arising in the transverse colon. Pathol Int 50:412–416PubMedCrossRefGoogle Scholar
  11. 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 130:343–348PubMedGoogle Scholar
  12. 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 8:367–372PubMedCrossRefGoogle Scholar
  13. 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 30:111–118PubMedCrossRefGoogle Scholar
  14. 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 44:97–102PubMedCrossRefGoogle Scholar
  15. 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):158–163PubMedCrossRefGoogle Scholar
  16. 16.
    Hersekli MA, Ozkoc G, Bircan S, Akpinar S, Ozalay M, Tuncer I, Tandogan RN (2005) Primary clear cell sarcoma of rib. Skelet Radiol 34:167–170CrossRefGoogle Scholar
  17. 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 448:200–203PubMedCrossRefGoogle Scholar
  18. 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 24:1026–1030CrossRefGoogle Scholar
  19. 19.
    Kindblom LG, Lodding P, Angervall L (1983) Clear cell sarcoma of tendons and aponeuroses. Virchows Arch (A) 401:109–128CrossRefGoogle Scholar
  20. 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 129:1484–1486PubMedGoogle Scholar
  21. 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 156:74–76PubMedCrossRefGoogle Scholar
  22. 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 41:526–530PubMedCrossRefGoogle Scholar
  23. 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 13:309–311PubMedCrossRefGoogle Scholar
  24. 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 23:589–594PubMedCrossRefGoogle Scholar
  25. 25.
    Saw D, Tse CH, Chan J, Watt CY, Ng CS, Poon YF (1986) Clear cell sarcoma of the penis. Human Pathol 17:423–425CrossRefGoogle Scholar
  26. 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 21:1775–1781PubMedCrossRefGoogle Scholar
  27. 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 447:772–777PubMedCrossRefGoogle Scholar
  28. 28.
    Venkataraman G, Quinn AM, Williams J, Hammadeh R (2005) Clear cell sarcoma of the small bowel: a potential pitfall. APMIS 113:716–719PubMedCrossRefGoogle Scholar
  29. 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 11:75–81PubMedCrossRefGoogle Scholar
  30. 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 4:341–345PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Camilla E. Comin
    • 1
  • Luca Novelli
    • 1
  • Daniela Tornaboni
    • 2
  • Luca Messerini
    • 1
  1. 1.Dipartimento di Patologia Umana ed OncologiaUniversità degli Studi di FirenzeFirenzeItaly
  2. 2.Anatomic Pathology UnitMassa e Carrara HospitalMassaItaly

Personalised recommendations