Skip to main content
SpringerLink
Log in

Epitheloide, biphasische und Mischtumoren des Weichgewebes

Epithelioid, biphasic and mixed tumors of soft tissue

  • Schwerpunkt: Sarkome
  • Published:
Der Pathologe Aims and scope Submit manuscript

Zusammenfassung

Epitheloide Weichgewebstumoren bestehen ausschließlich aus epitheloiden Tumorzellen. Biphasische Tumoren sind hingegen aus einer spindelzelligen und einer epitheloiden Komponente aufgebaut. Die seltenen Mischtumoren des Weichgewebes zeigen eine breitere Vielfalt der zellulären und Stromadifferenzierung, besitzen aber auch wenigstens eine, ggf. mehrere epitheloide Anteile.

Aufgrund der verblüffenden Ähnlichkeit mancher Entitäten untereinander und gegenüber den häufigeren Metastasen im Weichgewebe von Karzinomen, Karzinosarkomen und Melanomen, dem Mesotheliom oder bestimmten Lymphomen ist die Diagnostik oft ausgesprochen schwierig. Der Nachweis bestimmter molekularer Veränderungen (meist chromosomale Translokationen) hat zu Änderungen in der Tumorklassifikation, aber auch viel zur verbesserten pathologischen Diagnostik (z. B. durch Entwicklung potenter diagnostischer Antikörper) und zum biologischen Verständnis beigetragen.

Diese Übersicht soll dem Pathologen aus Sicht der morphologischen Mustererkennung eine Hilfestellung zur Diagnostik dieser seltenen Tumoren dienen. Die wichtigsten Entitäten werden ausführlicher besprochen und abgebildet, wobei stets auch neueste immunhistochemische und molekulare Aspekte einfließen und die Differenzialdiagnose zu ähnlichen Tumoren gewürdigt wird.

Abstract

Epithelioid soft tissue tumors consist exclusively of epithelioid tumor cells. Biphasic tumors are composed of both a spindle-cell and an epithelioid component. The rare mixed tumors of soft tissue show a broader variety of cellular and stromal differentiation but also include at least one, possibly several, epithelioid portions.

The close morphological similarity of some of these entities with each other, as well as with the more frequent soft tissue metastases of carcinomas, carcinosarcomas, and melanomas, to malignant mesothelioma and certain lymphomas, can often make the correct diagnosis extremely difficult. Recent advances in the detection of certain molecular alterations (mostly chromosomal translocations) have contributed to changes in tumor classification but also to improved pathological diagnostics (e.g. through the development of potent diagnostic antibodies) and biological understanding.

The present overview should help the pathologist in the diagnosis of these rare tumors through the classical approach of morphological pattern recognition. The most important entities are discussed and illustrated in more detail, with the incorporation of the latest immunohistochemical and molecular aspects and the differential diagnosis of similar tumors.

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

Access this article

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

Abb. 1
Abb. 2
Abb. 3
Abb. 4
Abb. 5
Abb. 6
Abb. 7

Abbreviations

AFH:

Angiomatoides fibröses Histiozytom

AWS:

Alveoläres Weichteilsarkom

BSS:

Biphänotypisches sinunasales Sarkom

CK:

Zytokeratin

dES:

Distales epitheloides Sarkom

EMA:

Epitheliales Membranantigen

EMC:

Extraskelettales myxoides Chondrosarkom

ES:

Epitheloides Sarkom

FISH:

Fluoreszenz-in-situ-Hybridisierung

HPF:

„High-power field“ (Hauptgesichtsfeld)

KZS:

Klarzellsarkom

lg-FMS:

Low-grade fibromyxoides Sarkom

ME:

Myoepitheliom

MEC:

Myoepitheliales Karzinom

MPNST:

Maligner peripherer Nervenscheidentumor

mRT:

Maligner Rhabdoidtumor

NOS:

„Not otherwise specified“ (nicht weiter spezifizierbar)

OFMT:

Ossifizierender fibromyxoider Tumor

PECom:

Tumor mit perivaskulärer Epitheloidzelldifferenzierung

pES:

Proximales epitheloides Sarkom

SEF:

Sklerosierendes epitheloides Fibroarkom

SS:

Synoviales Sarkom

Literatur

  1. Agaimy A (2019) Myxoide Weichgewebstumoren. Ein Algorithmus zur Differenzialdiagnose. Pathologe. https://doi.org/10.1007/s00292-019-0623-2

    Article  PubMed  Google Scholar 

  2. Antonescu CR, Tschernyavsky SJ, Woodruff JM, Jungbluth AA, Brennan MF, Ladanyi M (2002) Molecular diagnosis of clear cell sarcoma: detection of EWS-ATF1 and MITF-M transcripts and histopathological and ultrastructural analysis of 12 cases. J Mol Diagn 4(1):44–52

    Article  CAS  Google Scholar 

  3. Argani P, Lal P, Hutchinson B, Lui MY, Reuter VE, Ladanyi M (2003) Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. Am J Surg Pathol 27(6):750–761

    Article  Google Scholar 

  4. Casanova M, Ferrari A, Bisogno G, Cecchetto G, Basso E, De Bernardi B, Indolfi P, Fossati Bellani F, Carli M (2000) Alveolar soft part sarcoma in children and adolescents: A report from the Soft-Tissue Sarcoma Italian Cooperative Group. Ann Oncol 11(11):1445–1449

    Article  CAS  Google Scholar 

  5. Chbani L, Guillou L, Terrier P, Decouvelaere AV, Grégoire F, Terrier-Lacombe MJ, Ranchère D, Robin YM, Collin F, Fréneaux P, Coindre JM (2009) Epithelioid sarcoma: a clinicopathologic and immunohistochemical analysis of 106 cases from the French sarcoma group. Am J Clin Pathol 131(2):222–227

    Article  Google Scholar 

  6. Christopherson WM, Foote FW, Stewart FW (1952) Alveolar soft-part sarcomas; structurally characteristic tumors of uncertain histogenesis. Cancer 5(1):100–111

    Article  CAS  Google Scholar 

  7. Doyle LA, Wang WL, Dal Cin P, Lopez-Terrada D, Mertens F, Lazar AJ, Fletcher CD, Hornick JL (2012) MUC4 is a sensitive and extremely useful marker for sclerosing epithelioid fibrosarcoma: association with FUS gene rearrangement. Am J Surg Pathol 36(10):1444–1451

    Article  Google Scholar 

  8. Enzinger FM (1965) Clear-Cell sarcoma of tendons and sponeuroses. An analysis of 21 cases. Cancer 18:1163–1174

    Article  CAS  Google Scholar 

  9. Enzinger FM (1970) Epitheloid Sarcoma. A sarcoma simulating a granuloma or a carcinoma. Cancer 26(5):1029–1041

    Article  CAS  Google Scholar 

  10. Fisher C (2006) Epithelioid sarcoma of Enzinger. Adv Anat Pathol 13(3):114–211

    Article  Google Scholar 

  11. Fletcher CDM, Bridge JA, Hogendoorn P, Mertens F (2013) WHO classification of tumours of soft tissue and Bone, 4. Aufl. IARC Press, Lyon

    Google Scholar 

  12. Folpe AL, Deyrup AT (2006) Alveolar soft-part sarcoma: a review and update. J Clin Pathol 59(11):1127–1132

    Article  CAS  Google Scholar 

  13. Gleason BC, Hornick JL (2008) Myoepithelial tumours of skin and soft tissue: an update. Diagn Histopathol 14(11):552–562

    Article  Google Scholar 

  14. Guillou L, Wadden C, Coindre JM, Krausz T, Fletcher CD (1997) “Proximal-type” epithelioid sarcoma, a distinctive aggressive neoplasm showing rhabdoid features. Clinicopathologic, immunohistochemical, and ultrastructural study of a series. Am J Surg Pathol 21(2):130–146

    Article  CAS  Google Scholar 

  15. Hisaoka M, Ishida T, Kuo TT, Matsuyama A, Imamura T, Nishida K, Kuroda H, Inayama Y, Oshiro H, Kobayashi H, Nakajima T, Fukuda T, Ae K, Hashimoto H (2008) Clear cell sarcoma of soft tissue: a clinicopathologic, immunohistochemical, and molecular analysis of 33 cases. Am J Surg Pathol 32(3):452–460

    Article  Google Scholar 

  16. Hornick JL, Dal Cin P, Fletcher CD (2009) Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol 33(4):542–550

    Article  Google Scholar 

  17. Jawad MU, Extein J, Min ES, Scully SP (2009) Prognostic factors for survival in patients with epithelioid sarcoma: 441 cases from the SEER database. Clin Orthop Relat Res 467(11):2939–2948

    Article  Google Scholar 

  18. Jo VY, Fletcher CD (2015) Myoepithelial neoplasms of soft tissue: an updated review of the clinicopathologic, immunophenotypic, and genetic features. Head Neck Pathol 9(1):32–38

    Article  Google Scholar 

  19. Kawai A, Hosono A, Nakayama R, Matsumine A, Matsumoto S, Ueda T, Tsuchiya H, Beppu Y, Morioka H, Yabe H, Japanese Musculoskeletal Oncology Group (2007) Clear cell sarcoma of tendons and aponeuroses: a study of 75 patients. Cancer 109(1):109–116

    Article  CAS  Google Scholar 

  20. Koch K, Reddemann K, Klapper W, Oschlies I (2019) Hämatologische Neoplasien als Differentialdiagnosen von Weichgewebstumoren. Pathologe. https://doi.org/10.1007/s00292-019-0588-1

    Article  PubMed  Google Scholar 

  21. Ladanyi M (2001) Fusions of the SYT and SSX genes in synovial sarcoma. Oncogene 20(40):5755–5762

    Article  CAS  Google Scholar 

  22. Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PH, Mertens F, Mandahl N, van den Berghe H, Sciot R, Dal Cin P, Bridge J (2001) The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. Oncogene 20(1):48–57

    Article  CAS  Google Scholar 

  23. Le Loarer F, Watson S, Pierron G, de Montpreville VT, Ballet S, Firmin N, Auguste A, Pissaloux D, Boyault S, Paindavoine S, Dechelotte PJ, Besse B, Vignaud JM, Brevet M, Fadel E, Richer W, Treilleux I, Masliah-Planchon J, Devouassoux-Shisheboran M, Zalcman G, Allory Y, Bourdeaut F, Thivolet-Bejui F, Ranchere-Vince D, Girard N, Lantuejoul S, Galateau-Sallé F, Coindre JM, Leary A, Delattre O, Blay JY, Tirode F (2015) SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. Nat Genet 47(10):1200–1205

    Article  Google Scholar 

  24. Lucas DR, Nascimento AG, Sim FH (1992) Clear cell sarcoma of soft tissues. Mayo Clinic experience with 35 cases. Am J Surg Pathol 16(12):1197–1204

    Article  CAS  Google Scholar 

  25. Meis-Kindblom JM, Kindblom LG, Enzinger FM (1995) Sclerosing epithelioid fibrosarcoma. A variant of fibrosarcoma simulating carcinoma. Am J Surg Pathol 19(9):979–993

    Article  CAS  Google Scholar 

  26. Miettinen M, Fanburg-Smith JC, Virolainen M, Shmookler BM, Fetsch JF (1999) Epithelioid sarcoma: an immunohistochemical analysis of 112 classical and variant cases and a discussion of the differential diagnosis. Hum Pathol 30(8):934–942

    Article  CAS  Google Scholar 

  27. Oda Y, Tsuneyoishi M (2006) Extrarenal rhabdoid tumors of soft tissue: clinicopathological and molecular genetic review and distinction from other soft-tissue sarcomas with rhabdoid features. Pathol Int 56(6):287–295

    Article  Google Scholar 

  28. Schaefer IM, Fletcher CD, Hornick JL (2016) Loss of H3K27 trimethylation distinguishes malignant peripheral nerve sheath tumors from histologic mimics. Mod Pathol 29(1):4–13

    Article  CAS  Google Scholar 

  29. Schildhaus HU, Evert M (2019) Rundzellige Sarkome. Pathologe. https://doi.org/10.1007/s00292-019-0633-0

    Article  PubMed  Google Scholar 

  30. Stenman G, Kindblom LG, Angervall L (1992) Reciprocal translocation t(12;22)(q13;q13) in clear-cell sarcoma of tendons and aponeuroses. Genes Chromosomes Cancer 4(2):122–127

    Article  CAS  Google Scholar 

  31. Sápi Z, Papp G, Szendrői M, Pápai Z, Plótár V, Krausz T, Fletcher CD (2016) Epigenetic regulation of SMARCB1 By miR-206, -381 and -671-5p is evident in a variety of SMARCB1 immunonegative soft tissue sarcomas, while miR-765 appears specific for epithelioid sarcoma. A miRNA study of 223 soft tissue sarcomas. Genes Chromosomes Cancer 55(10):786–802

    Article  Google Scholar 

  32. Utpatel K, Calvisi DF, Köhler G et al (2019) Komplexität von PEComen. Diagnose, Molekulargenetik, klinisches Management. Pathologe. https://doi.org/10.1007/s00292-019-0601-8

    Article  PubMed  Google Scholar 

  33. Wang X, Bledsoe KL, Graham RP, Asmann YW, Viswanatha DS, Lewis JE, Lewis JT, Chou MM, Yaszemski MJ, Jen J, Westendorf JJ, Oliveira AM (2014) Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma. Nat Genet 46(7):666–668

    Article  CAS  Google Scholar 

  34. Yoshida A, Kobayashi E, Kubo T, Kodaira M, Motoi T, Motoi N, Yonemori K, Ohe Y, Watanabe SI, Kawai A, Kohno T, Kishimoto H, Ichikawa H, Hiraoka N (2017) Clinicopathological and molecular characterization of SMARCA4-deficient thoracic sarcomas with comparison to potentially related entities. Mod Pathol 30(6):797–809

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institut für Pathologie, Universität Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Deutschland

    M. Evert

  2. Institut für Pathologie, Universitätsklinikum Essen, Hufelandstraße 55, 45147, Essen, Deutschland

    H.-U. Schildhaus

Authors
  1. M. Evert
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. H.-U. Schildhaus
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M. Evert.

Ethics declarations

Interessenkonflikt

M. Evert und H.-U. Schildhaus geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

Additional information

Redaktion

H. A. Baba, Essen

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Evert, M., Schildhaus, HU. Epitheloide, biphasische und Mischtumoren des Weichgewebes. Pathologe 40, 393–411 (2019). https://doi.org/10.1007/s00292-019-0627-y

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00292-019-0627-y

Schlüsselwörter

Keywords

Search

Navigation