Skip to main content
SpringerLink
Log in

Myxoide Weichgewebstumoren

Ein Algorithmus zur Differenzialdiagnose

Myxoid soft tissue tumours

An algorithm for differential diagnosis

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

Zusammenfassung

Weichgewebstumoren mit myxoiden Eigenschaften sind häufig und aufgrund ihrer komplexen Differenzialdiagnostik im Konsilgut signifikant überrepräsentiert. Dies gilt nicht nur für Sarkome, sondern insbesondere auch für gutartige Läsionen. Allgemein lassen sich myxoide Weichgewebstumoren in 2 Gruppen untergliedern: (1) per definitionem myxoide Läsionen (die gelegentlich auch nichtmyxoid erscheinen können) und (2) myxoide Varianten anderer im Prinzip nichtmyxoider Neoplasien.

Für die Komplexität der myxoiden Neoplasien sind hauptsächlich 4 diagnostische Herausforderungen verantwortlich: (1) Die Dignität wird oft nicht durch konventionelle Malignitätskriterien, sondern durch die Entitätsdiagnose selbst definiert, daher die Gefahr der Malignitätsunterdiagnose (z. B. beim niedrig malignen fibromyxoiden Sarkom). (2) Harmlose myxoide Läsionen können eine hohe Proliferation zeigen mit der Gefahr der Malignitätsüberdiagnose (z. B. bei der nodulären und proliferativen Fasziitis). (3) Häufig wird vergessen, dass eine Beurteilung nicht nur von Zellmorphologie/Differenzierungsmerkmalen, sondern insbesondere auch von Stromaeigenschaften, Gefäßmuster und Architektur der Läsion Basis des differenzialdiagnostischen Algorithmus darstellt (z. B. bei der Differenzialdiagnose myxoides Liposarkom vs. extraskelettales myxoides Chondrosarkom). (4) Die Erkennung myxoider Varianten sonstiger Tumoren kann oft nur durch den Nachweis einer konventionellen Komponente ermöglicht werden, daher besteht die Notwendigkeit, repräsentatives Material mittels ausreichenden Samplings zu untersuchen.

Die vorliegende Übersicht soll diese Aspekte beleuchten und die komplexe Differenzialdiagnostik anschaulich darstellen.

Abstract

Soft tissue neoplasms with myxoid features are collectively not uncommon. Their often complex differential diagnosis makes them significantly over-represented among consultation cases. This applies not only to sarcomas but in particular to benign lesions as well. Generally, myxoid soft tissue lesions are divided into two major groups: (1) myxoid lesions by definition (which can however rarely be non-myxoid) and (2) rare myxoid variants of otherwise non-myxoid entities.

Four major diagnostic challenges are responsible for the complexity of myxoid soft tissue neoplasms: (1) Diagnosis of malignancy in many cases is not based on conventional malignancy criteria but is defined by the entity itself, making under-diagnosis of malignancy likely in entities such as low-grade fibromyxoid sarcoma. (2) On the other hand, harmless myxoid lesions with features of high proliferation, e.g. nodular and proliferative fasciitis, tend to be over-diagnosed as malignant by the unworried. (3) The necessity to assess not only cellular morphology/differentiation, but also the stromal, vascular and architectural characteristics adds to the complexity of the differential diagnostic algorithm. (4) Last but not least, recognition of unexpected myxoid variants of non-myxoid entities is basically impossible if focal conventional areas are absent, underlining the need for high suspicion index and sufficient sampling.

This review illuminates the various aspects related to the differential diagnostic workup of these challenging entities.

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

Literatur

  1. Agaimy A, Michal M, Giedl J, Hadravsky L, Michal M (2017) Superficial acral fibromyxoma: Clinicopathological, immunohistochemical, and molecular study of 11 cases highlighting frequent Rb1 loss/deletions. Hum Pathol 60:192–198

    Article  CAS  Google Scholar 

  2. Agaimy A (2019) SWI/SNF complex-deficient soft tissue neoplasms: A pattern-based approach to diagnosis and differential diagnosis. Surg Pathol Clin 12:149–163

    Article  Google Scholar 

  3. Allen PW, Dymock RB, MacCormac LB (1988) Superficial angiomyxomas with and without epithelial components. Report of 30 tumors in 28 patients. Am J Surg Pathol 12:519–530

    Article  CAS  Google Scholar 

  4. Allen PW (2000) Myxoma is not a single entity: a review of the concept of myxoma. Ann Diagn Pathol 4:99–123

    Article  CAS  Google Scholar 

  5. Baheti AD, Tirumani SH, Rosenthal MH, Howard SA, Shinagare AB, Ramaiya NH, Jagannathan JP (2015) Myxoid soft-tissue neoplasms: Comprehensive update of the taxonomy and MRI features. AJR Am J Roentgenol 204:374–385

    Article  Google Scholar 

  6. Calonje E, Guerin D, McCormick D, Fletcher CD (1999) Superficial angiomyxoma: Clinicopathologic analysis of a series of distinctive but poorly recognized cutaneous tumors with tendency for recurrence. Am J Surg Pathol 23:910–917

    Article  CAS  Google Scholar 

  7. de Saint Aubain Somerhausen N, Rubin BP, Fletcher CD (1999) Myxoid solitary fibrous tumor: A study of seven cases with emphasis on differential diagnosis. Mod Pathol 12:463–471

    PubMed  Google Scholar 

  8. Downs-Kelly E, Goldblum JR, Patel RM, Weiss SW, Folpe AL, Mertens F, Hartke M, Tubbs RR, Skacel M (2008) The utility of fluorescence in situ hybridization (FISH) in the diagnosis of myxoid soft tissue neoplasms. Am J Surg Pathol 32:8–13

    Article  Google Scholar 

  9. Fetsch JF, Laskin WB, Lefkowitz M, Kindblom LG, Meis-Kindblom JM (1996) Aggressive angiomyxoma: A clinicopathologic study of 29 female patients. Cancer 78:79–90

    Article  CAS  Google Scholar 

  10. Fetsch JF, Laskin WB, Miettinen M (2001) Superficial acral fibromyxoma: A clinicopathologic and immunohistochemical analysis of 37 cases of a distinctive soft tissue tumor with a predilection for the fingers and toes. Hum Pathol 32:704–714

    Article  CAS  Google Scholar 

  11. Fetsch JF, Laskin WB, Miettinen M (2005) Nerve sheath myxoma: A clinicopathologic and immunohistochemical analysis of 57 morphologically distinctive, S‑100 protein- and GFAP-positive, myxoid peripheral nerve sheath tumors with a predilection for the extremities and a high local recurrence rate. Am J Surg Pathol 29:1615–1624

    Article  Google Scholar 

  12. Fetsch JF, Laskin WB, Hallman JR, Lupton GP, Miettinen M (2007) Neurothekeoma: An analysis of 178 tumors with detailed immunohistochemical data and long-term patient follow-up information. Am J Surg Pathol 31:1103–1114

    Article  Google Scholar 

  13. Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F (Hrsg) (2013) World Health Organisation classification of tumours of soft tissue and bone, 4. Aufl. IARC, Lyon

    Google Scholar 

  14. Folpe AL, Lane KL, Paull G, Weiss SW (2000) Low-grade fibromyxoid sarcoma and hyalinizing spindle cell tumor with giant rosettes: A clinicopathologic study of 73 cases supporting their identity and assessing the impact of high-grade areas. Am J Surg Pathol 24:1353–1360

    Article  CAS  Google Scholar 

  15. Graadt van Roggen JF, Hogendoorn PC, Fletcher CD (1999) Myxoid tumours of soft tissue. Histopathology 35:291–312

    Article  CAS  Google Scholar 

  16. Hollmann TJ, Bovée JV, Fletcher CD (2012) Digital fibromyxoma (superficial acral fibromyxoma): A detailed characterization of 124 cases. Am J Surg Pathol 36:789–798

    Article  Google Scholar 

  17. Hornick JL, Fletcher CD (2003) Myoepithelial tumors of soft tissue: A clinicopathologic and immunohistochemical study of 101 cases with evaluation of prognostic parameters. Am J Surg Pathol 27:1183–1196

    Article  Google Scholar 

  18. Laskin WB, Fetsch JF, Miettinen M (2014) Myxoinflammatory fibroblastic sarcoma: A clinicopathologic analysis of 104 cases, with emphasis on predictors of outcome. Am J Surg Pathol 38:1–12

    Article  Google Scholar 

  19. Mentzel T, Calonje E, Wadden C, Camplejohn RS, Beham A, Smith MA, Fletcher CD (1996) Myxofibrosarcoma. Clinicopathologic analysis of 75 cases with emphasis on the low-grade variant. Am J Surg Pathol 20:391–405

    Article  CAS  Google Scholar 

  20. Mentzel T, Katenkamp D, Fletcher CD (1996) Niedrig malignes Myxofibrosarkom versus niedrig malignes fibromyxoides Sarkom. Distinkte Entitäten mit ähnlichem Namen, aber unterschiedlichem Krankheitsverlauf. Pathologe 17:116–121

    Article  CAS  Google Scholar 

  21. Mentzel T, Kutzner H (2005) Reticular and plexiform perineurioma: Clinicopathological and immunohistochemical analysis of two cases and review of perineurial neoplasms of skin and soft tissues. Virchows Arch 447:677–682

    Article  Google Scholar 

  22. Miettinen M, Makhlouf HR, Sobin LH, Lasota J (2009) Plexiform fibromyxoma: A distinctive benign gastric antral neoplasm not to be confused with a myxoid GIST. Am J Surg Pathol 33:1624–1632

    Article  Google Scholar 

  23. Nascimento AF, Bertoni F, Fletcher CD (2007) Epithelioid variant of myxofibrosarcoma: expanding the clinicomorphologic spectrum of myxofibrosarcoma in a series of 17 cases. Am J Surg Pathol 31:99–105

    Article  Google Scholar 

  24. Reimann JD, Fletcher CD (2007) Myxoid dermatofibrosarcoma protuberans: A rare variant analyzed in a series of 23 cases. Am J Surg Pathol 31:1371–1377

    Article  Google Scholar 

  25. Rubin BP, Fletcher CD (2000) Myxoid leiomyosarcoma of soft tissue, an underrecognized variant. Am J Surg Pathol 24:927–936

    Article  CAS  Google Scholar 

  26. Schaefer IM, Fletcher CD (2014) Myxoid variant of so-called angiomatoid “malignant fibrous histiocytoma”: Clinicopathologic characterization in a series of 21 cases. Am J Surg Pathol 38:816–823

    Article  Google Scholar 

  27. Schneider N, Fisher C, Thway K (2016) Ossifying fibromyxoid tumor: Morphology, genetics, and differential diagnosis. Ann Diagn Pathol 20:52–58

    Article  Google Scholar 

  28. Sioletic S, Dal Cin P, Fletcher CD, Hornick JL (2013) Well-differentiated and dedifferentiated liposarcomas with prominent myxoid stroma: Analysis of 56 cases. Histopathology 62:287–293

    Article  Google Scholar 

  29. Spans L, Fletcher CD, Antonescu CR, Rouquette A, Coindre JM, Sciot R, Debiec-Rychter M (2016) Recurrent MALAT1-GLI1 oncogenic fusion and GLI1 up-regulation define a subset of plexiform fibromyxoma. J Pathol 239:335–343

    Article  CAS  Google Scholar 

  30. Stratakis CA, Raygada M (2018) Carney Complex (Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2019)

    Google Scholar 

  31. Sunitsch S, Gilg MM, Kashofer K, Gollowitsch F, Leithner A, Liegl-Atzwanger B (2018) Detection of GNAS mutations in intramuscular/cellular myxomas as diagnostic tool in the classification of myxoid soft tissue tumors. Diagn Pathol 13:52

    Article  Google Scholar 

  32. Thway K, Fisher C (2019) Mesenchymal tumors with EWSR1 gene rearrangements. Surg Pathol Clin 12:165–190

    Article  Google Scholar 

  33. Ud Din N, Ahmad Z, Zreik R, Horvai A, Folpe AL, Fritchie K (2018) Abdominopelvic and retroperitoneal low-grade fibromyxoid sarcoma: A clinicopathologic study of 13 cases. Am J Clin Pathol 149:128–134

    Article  Google Scholar 

  34. Willems SM, Mohseny AB, Balog C, Sewrajsing R, Briaire-de Bruijn IH, Knijnenburg J, Cleton-Jansen AM, Sciot R, Fletcher CD, Deelder AM, Szuhai K, Hensbergen PJ, Hogendoorn PC (2009) Cellular/intramuscular myxoma and grade I myxofibrosarcoma are characterized by distinct genetic alterations and specific composition of their extracellular matrix. J Cell Mol Med 13:1291–1301

    Article  CAS  Google Scholar 

  35. Zou Y, Billings SD (2016) Myxoid cutaneous tumors: A review. J Cutan Pathol 43:903–918

    Article  Google Scholar 

  36. Zreik RT, Carter JM, Sukov WR, Ahrens WA, Fritchie KJ, Montgomery EA, Weiss SW, Folpe AL (2016) TGFBR3 and MGEA5 rearrangements are much more common in “hybrid” hemosiderotic fibrolipomatous tumor-myxoinflammatory fibroblastic sarcomas than in classical myxoinflammatory fibroblastic sarcomas: A morphological and fluorescence in situ hybridization study. Hum Pathol 53:14–24

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Pathologisches Institut, Universitätsklinikum Erlangen, Krankenhausstraße 8–10, 91054, Erlangen, Deutschland

    A. Agaimy

Authors
  1. A. Agaimy
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to A. Agaimy.

Ethics declarations

Interessenkonflikt

A. Agaimy gibt 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

Schwerpunktherausgeber

M. Evert, Regensburg

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Agaimy, A. Myxoide Weichgewebstumoren. Pathologe 40, 353–365 (2019). https://doi.org/10.1007/s00292-019-0623-2

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00292-019-0623-2

Schlüsselwörter

Keywords

Search

Navigation