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Ancillary Diagnostic Tests in the Diagnosis of Cutaneous Soft Tissue Neoplasms

  • Andrew L. FolpeEmail author
Chapter

Abstract

This chapter will cover selected applications of immunohistochemistry (IHC) in the diagnosis of soft tissue tumors of the skin. This section will emphasize applications of IHC to common differential diagnoses in cutaneous soft tissue pathology, including (1) pleomorphic spindle cell tumors; (2) epithelioid malignant neoplasms; (3) monomorphic spindle cell tumors; (4) “fibrohistiocytic” or “histiocytoid” lesions; (5) small, round blue cell tumors; and (6) adipocytic tumors. It is not possible in this relatively brief section to provide a detailed discussion of each antigen or of every rare soft tissue tumor that may occasionally be seen in the skin, and the reader is referred to the relevant chapters in this book for more detailed discussions of specific entities.

Keywords

Immunohistochemistry Differential diagnosis FISH Sarcoma Carcinoma Melanoma Sarcoma Vascular tumor 

Selected References

  1. 1.
    Adhikari LA, McCalmont TH, Folpe AL. Merkel cell carcinoma with heterologous rhabdomyoblastic differentiation: the role of immunohistochemistry for Merkel cell polyomavirus large T-antigen in confirmation. J Cutan Pathol. 2012;39(1):47–51.PubMedCrossRefGoogle Scholar
  2. 2.
    Alomari AK, Glusac EJ, McNiff JM. p40 is a more specific marker than p63 for cutaneous poorly differentiated squamous cell carcinoma. J Cutan Pathol. 2014;41(11):839–45.PubMedCrossRefGoogle Scholar
  3. 3.
    Azumi N, Battifora H. The distribution of vimentin and keratin in epithelial and nonepithelial neoplasms. A comprehensive immunohistochemical study on formalin- and alcohol-fixed tumors. Am J Clin Pathol. 1987;88(3):286–96.PubMedCrossRefGoogle Scholar
  4. 4.
    Bacchi CE, Bonetti F, Pea M, Martignoni G, Gown AM. HMB-45. A review. Appl Immunohistochem. 1996;4(2):73–85.Google Scholar
  5. 5.
    Barnoud R, Sabourin JC, Pasquier D, Ranchere D, Bailly C, Terrier-Lacombe MJ, et al. Immunohistochemical expression of WT1 by desmoplastic small round cell tumor: a comparative study with other small round cell tumors. Am J Surg Pathol. 2000;24(6):830–6.PubMedCrossRefGoogle Scholar
  6. 6.
    Bishop JA, Montgomery EA, Westra WH. Use of p40 and p63 immunohistochemistry and human papillomavirus testing as ancillary tools for the recognition of head and neck sarcomatoid carcinoma and its distinction from benign and malignant mesenchymal processes. Am J Surg Pathol. 2014;38(2):257–64.PubMedPubMedCentralCrossRefGoogle Scholar
  7. 7.
    Bridge JA. The role of cytogenetics and molecular diagnostics in the diagnosis of soft-tissue tumors. Mod Pathol. 2014;27(Suppl 1):S80–97.PubMedCrossRefGoogle Scholar
  8. 8.
    Brown DC, Theaker JM, Banks PM, Gatter KC, Mason DY. Cytokeratin expression in smooth muscle and smooth muscle tumours. Histopathology. 1987;11(5):477–86.PubMedCrossRefGoogle Scholar
  9. 9.
    Busam KJ, Jungbluth AA. Melan-A, a new melanocytic differentiation marker. Adv Anat Pathol. 1999;6(1):12–8.PubMedCrossRefGoogle Scholar
  10. 10.
    Cassidy M, Loftus B, Whelan A, Sabt B, Hickey D, Henry K, et al. KP-1: not a specific marker. Staining of 137 sarcomas, 48 lymphomas, 28 carcinomas, 7 malignant melanomas and 8 cystosarcoma phyllodes. Virchows Arch. 1994;424(6):635–40.PubMedCrossRefGoogle Scholar
  11. 11.
    Dei Tos AP, Wadden C, Calonje E, Sciot R, Pauwels P, Knight JC, et al. Immunohistochemical demonstration of glycoprotein p30/32(MIC2) (CD99) in synovial sarcoma: a potential cause of diagnostic confusion. Appl Immunohistochem. 1995;3(3):168–73.Google Scholar
  12. 12.
    Doyle LA, Moller E, Dal Cin P, Fletcher CD, Mertens F, Hornick JL. MUC4 is a highly sensitive and specific marker for low-grade fibromyxoid sarcoma. Am J Surg Pathol. 2011;35(5):733–41.PubMedCrossRefGoogle Scholar
  13. 13.
    Doyle LA, Fletcher CD, Hornick JL. Nuclear expression of CAMTA1 distinguishes epithelioid hemangioendothelioma from histologic mimics. Am J Surg Pathol. 2016;40(1):94–102.PubMedCrossRefGoogle Scholar
  14. 14.
    Fanburg-Smith JC, Miettinen M. Angiomatoid “malignant” fibrous histiocytoma: a clinicopathologic study of 158 cases and further exploration of the myoid phenotype. Hum Pathol. 1999;30(11):1336–43.PubMedCrossRefGoogle Scholar
  15. 15.
    Fetsch JF, Laskin WB, Hallman JR, Lupton GP, Miettinen M. Neurothekeoma: an analysis of 178 tumors with detailed immunohistochemical data and long-term patient follow-up information. Am J Surg Pathol. 2007;31(7):1103–14.PubMedCrossRefGoogle Scholar
  16. 16.
    Folpe AL. MyoD1 and myogenin expression in human neoplasia: a review and update. Adv Anat Pathol. 2002;9(3):198–203.PubMedCrossRefGoogle Scholar
  17. 17.
    Folpe AL. Selected topics in the pathology of epithelioid soft tissue tumors. Mod Pathol. 2014;27(Suppl 1):S64–79.PubMedCrossRefGoogle Scholar
  18. 18.
    Folpe AL, Kwiatkowski DJ. Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol. 2010;41(1):1–15.PubMedCrossRefGoogle Scholar
  19. 19.
    Folpe AL, Chand EM, Goldblum JR, Weiss SW. Expression of Fli-1, a nuclear transcription factor, distinguishes vascular neoplasms from potential mimics. Am J Surg Pathol. 2001;25(8):1061–6.PubMedCrossRefGoogle Scholar
  20. 20.
    Folpe AL, Goldblum JR, Rubin BP, Shehata BM, Liu W, Dei Tos AP, et al. Morphologic and immunophenotypic diversity in Ewing family tumors: a study of 66 genetically confirmed cases. Am J Surg Pathol. 2005;29(8):1025–33.PubMedGoogle Scholar
  21. 21.
    Fox MD, Billings SD, Gleason BC, Moore J, Thomas AB, Shea CR, et al. Expression of MiTF may be helpful in differentiating cellular neurothekeoma from plexiform fibrohistiocytic tumor (histiocytoid predominant) in a partial biopsy specimen. Am J Dermatopathol. 2012;34(2):157–60.PubMedCrossRefGoogle Scholar
  22. 22.
    Gleason BC, Fletcher CD. Myoepithelial carcinoma of soft tissue in children: an aggressive neoplasm analyzed in a series of 29 cases. Am J Surg Pathol. 2007;31(12):1813–24.PubMedCrossRefGoogle Scholar
  23. 23.
    Gray MH, Rosenberg AE, Dickersin GR, Bhan AK. Cytokeratin expression in epithelioid vascular neoplasms. Hum Pathol. 1990;21(2):212–7.PubMedCrossRefGoogle Scholar
  24. 24.
    Guillou L, Wadden C, Kraus MD, Dei Tos AP, Fletcher CDM. S-100 protein reactivity in synovial sarcomas – a potentially frequent diagnostic pitfall. Immunohistochemical analysis of 100 cases. Appl Immunohistochem. 1996;4(3):167–75.Google Scholar
  25. 25.
    Henderson SA, Torres-Cabala CA, Curry JL, Bassett RL, Ivan D, Prieto VG, et al. p40 is more specific than p63 for the distinction of atypical fibroxanthoma from other cutaneous spindle cell malignancies. Am J Surg Pathol. 2014;38(8):1102–10.PubMedCrossRefGoogle Scholar
  26. 26.
    Hill DA, Pfeifer JD, Marley EF, Dehner LP, Humphrey PA, Zhu X, et al. WT1 staining reliably differentiates desmoplastic small round cell tumor from Ewing sarcoma/primitive neuroectodermal tumor. An immunohistochemical and molecular diagnostic study. Am J Clin Pathol. 2000;114(3):345–53.PubMedCrossRefGoogle Scholar
  27. 27.
    Hornick JL, Fletcher CD. Myoepithelial tumors of soft tissue: a clinicopathologic and immunohistochemical study of 101 cases with evaluation of prognostic parameters. Am J Surg Pathol. 2003;27(9):1183–96.PubMedCrossRefGoogle Scholar
  28. 28.
    Hornick JL, Fletcher CD. Cutaneous myoepithelioma: a clinicopathologic and immunohistochemical study of 14 cases. Hum Pathol. 2004;35(1):14–24.PubMedCrossRefGoogle Scholar
  29. 29.
    Hornick JL, Fletcher CD. Soft tissue perineurioma: clinicopathologic analysis of 81 cases including those with atypical histologic features. Am J Surg Pathol. 2005;29(7):845–58.PubMedCrossRefGoogle Scholar
  30. 30.
    Hung YP, Fletcher CD, Hornick JL. FOSB is a useful diagnostic marker for pseudomyogenic hemangioendothelioma. Am J Surg Pathol. 2017;41(5):596–606.PubMedCrossRefGoogle Scholar
  31. 31.
    Jagdis A, Rubin BP, Tubbs RR, Pacheco M, Nielsen TO. Prospective evaluation of TLE1 as a diagnostic immunohistochemical marker in synovial sarcoma. Am J Surg Pathol. 2009;33(12):1743–51.PubMedCrossRefGoogle Scholar
  32. 32.
    Jo VY, Fletcher CD. p63 immunohistochemical staining is limited in soft tissue tumors. Am J Clin Pathol. 2011;136(5):762–6.PubMedCrossRefGoogle Scholar
  33. 33.
    Karamchandani JR, Nielsen TO, van de Rijn M, West RB. Sox10 and S100 in the diagnosis of soft-tissue neoplasms. Appl Immunohistochem Mol Morphol. 2012;20(5):445–50.PubMedCrossRefGoogle Scholar
  34. 34.
    Kosemehmetoglu K, Vrana JA, Folpe AL. TLE1 expression is not specific for synovial sarcoma: a whole section study of 163 soft tissue and bone neoplasms. Mod Pathol. 2009;22(7):872–8.PubMedCrossRefGoogle Scholar
  35. 35.
    Mentzel T, Dei Tos AP, Sapi Z, Kutzner H. Myopericytoma of skin and soft tissues: clinicopathologic and immunohistochemical study of 54 cases. Am J Surg Pathol. 2006;30(1):104–13.PubMedCrossRefGoogle Scholar
  36. 36.
    Mentzel T, Schildhaus HU, Palmedo G, Buttner R, Kutzner H. Postradiation cutaneous angiosarcoma after treatment of breast carcinoma is characterized by MYC amplification in contrast to atypical vascular lesions after radiotherapy and control cases: clinicopathological, immunohistochemical and molecular analysis of 66 cases. Mod Pathol. 2012;25(1):75–85.PubMedCrossRefGoogle Scholar
  37. 37.
    Miettinen M. Immunoreactivity for cytokeratin and epithelial membrane antigen in leiomyosarcoma. Arch Pathol Lab Med. 1988;112(6):637–40.PubMedGoogle Scholar
  38. 38.
    Miettinen M, Fanburg-Smith JC, Virolainen M, Shmookler BM, Fetsch JF. Epithelioid sarcoma: an immunohistochemical analysis of 112 classical and variant cases and a discussion of the differential diagnosis. Hum Pathol. 1999;30(8):934–42.PubMedCrossRefGoogle Scholar
  39. 39.
    Miettinen M, Wang ZF, Paetau A, Tan SH, Dobi A, Srivastava S, et al. ERG transcription factor as an immunohistochemical marker for vascular endothelial tumors and prostatic carcinoma. Am J Surg Pathol. 2011;35(3):432–41.PubMedCrossRefGoogle Scholar
  40. 40.
    Miller K, Goodlad JR, Brenn T. Pleomorphic dermal sarcoma: adverse histologic features predict aggressive behavior and allow distinction from atypical fibroxanthoma. Am J Surg Pathol. 2012;36(9):1317–26.PubMedCrossRefGoogle Scholar
  41. 41.
    Mohamed A, Gonzalez RS, Lawson D, Wang J, Cohen C. SOX10 expression in malignant melanoma, carcinoma, and normal tissues. Appl Immunohistochem Mol Morphol. 2013;21(6):506–10.PubMedCrossRefGoogle Scholar
  42. 42.
    Nonaka D, Chiriboga L, Rubin BP. Sox10: a pan-schwannian and melanocytic marker. Am J Surg Pathol. 2008;32(9):1291–8.PubMedCrossRefGoogle Scholar
  43. 43.
    Palla B, Su A, Binder S, Dry S. SOX10 expression distinguishes desmoplastic melanoma from its histologic mimics. Am J Dermatopathol. 2013;35(5):576–81.PubMedCrossRefGoogle Scholar
  44. 44.
    Rangdaeng S, Truong LD. Comparative immunohistochemical staining for desmin and muscle-specific actin. A study of 576 cases (see comments). Am J Clin Pathol. 1991;96(1):32–45.PubMedCrossRefGoogle Scholar
  45. 45.
    Romano RC, Carter JM, Folpe AL. Aberrant intermediate filament and synaptophysin expression is a frequent event in malignant melanoma: an immunohistochemical study of 73 cases. Mod Pathol. 2015;28(8):1033–42.PubMedCrossRefGoogle Scholar
  46. 46.
    Rossi S, Orvieto E, Furlanetto A, Laurino L, Ninfo V, Dei Tos AP. Utility of the immunohistochemical detection of FLI-1 expression in round cell and vascular neoplasm using a monoclonal antibody. Mod Pathol. 2004;17(5):547–52.PubMedCrossRefGoogle Scholar
  47. 47.
    Sandell RF, Carter JM, Folpe AL. Solitary (juvenile) xanthogranuloma: a comprehensive immunohistochemical study emphasizing recently developed markers of histiocytic lineage. Hum Pathol. 2015;46(9):1390–7.PubMedCrossRefGoogle Scholar
  48. 48.
    Truong LD, Rangdaeng S, Cagle P, Ro JY, Hawkins H, Font RL. The diagnostic utility of desmin. A study of 584 cases and review of the literature (see comments). Am J Clin Pathol. 1990;93(3):305–14.PubMedCrossRefGoogle Scholar
  49. 49.
    Ud Din N, Zhang P, Sukov WR, Sattler CA, Jenkins SM, Doyle LA, et al. Spindle cell lipomas arising at atypical locations. Am J Clin Pathol. 2016;146(4):487–95.PubMedCrossRefGoogle Scholar
  50. 50.
    van de Rijn M, Rouse R. CD34: a review. Appl Immunohistochem. 1994;2(2):71–80.Google Scholar
  51. 51.
    Wang NP, Marx J, McNutt MA, Rutledge JC, Gown AM. Expression of myogenic regulatory proteins (myogenin and MyoD1) in small blue round cell tumors of childhood. Am J Pathol. 1995;147(6):1799–810.PubMedPubMedCentralGoogle Scholar
  52. 52.
    Watanabe K, Kusakabe T, Hoshi N, Saito A, Suzuki T. h-Caldesmon in leiomyosarcoma and tumors with smooth muscle cell-like differentiation: its specific expression in the smooth muscle cell tumor. Hum Pathol. 1999;30(4):392–6.PubMedCrossRefGoogle Scholar
  53. 53.
    Weiss SW, Langloss JM, Enzinger FM. Value of S-100 protein in the diagnosis of soft tissue tumors with particular reference to benign and malignant Schwann cell tumors. Lab Investig. 1983;49(3):299–308.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Laboratory Medicine and PathologyMayo ClinicRochesterUSA

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