Skip to main content
SpringerLink
Log in

Rundzellige Sarkome

Round-cell sarcomas

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

Zusammenfassung

Rundzellige Sarkome sind hochmaligne Tumoren, die insbesondere bei Kindern, Jugendlichen und jungen Erwachsenen vorkommen. Sie werden durch rekurrente Translokationen unter Beteiligung von Transkriptionsfaktoren verursacht. Typische Vertreter sind das Ewing-Sarkom, Ewing-artige Sarkome (z. B. CIC-DUX4- und BCOR-Sarkome), der desmoplastische klein-rundzellige Tumor (DSRCT) und das alveoläre Rhabdomyosarkom (ARMS). Die einzelnen Entitäten unterscheiden sich in ihrer Tumorgenetik, aber auch im immunhistochemischen Expressionsprofil und im klinischen Phänotyp. Die Klassifikation sollte auf Basis molekularpathologischer Befunde erfolgen. Immunhistochemie kann als Surrogatmarker dienen.

Abstract

Round-cell sarcomas represent highly malignant tumors that occur predominantly in children, adolescents, and young adults. Round-cell sarcomas are caused by recurrent translocations that involve certain transcription factors. Ewing’s sarcoma, Ewing-like sarcomas (e.g. CIC-DUX positive or BCOR positive sarcomas), desmoplastic small round-cell tumors (DSRCTs), and alveolar rhabdomyosarcomas (ARMs) are typical examples of this particular group of sarcomas. These entities differ in their tumor genetics, which is correlated with immunohistochemical expression profiles and with clinical phenotypes. Classification should be based on molecular findings. Immunohistochemistry may serve as a surrogate marker.

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

Literatur

  1. Schmitz K, Schildhaus HU (2015) Molecular pathology of soft tissue tumors: Contribution to diagnosis and therapy prediction. Pathologe 36:126–136

    Article  CAS  Google Scholar 

  2. Paulussen M, Fröhlich B, Jürgens H (2001) Ewing tumour: Incidence, prognosis and treatment options. Paediatr Drugs 3:899–913

    Article  CAS  Google Scholar 

  3. Cotterill SJ, Ahrens S, Paulussen M, Jürgens HF, Voûte PA, Gadner H, Craft AW (2000) Prognostic factors in Ewing’s tumor of bone: Analysis of 975 patients from the European intergroup cooperative ewing’s sarcoma study group. J Clin Oncol 18:3108–3114

    Article  CAS  Google Scholar 

  4. van Maldegem AM, Bovée JV, Peterse EF, Hogendoorn PC, Gelderblom H (2016) Ewing sarcoma: The clinical relevance of the insulin-like growth factor 1 and the poly-ADP-ribose-polymerase pathway. Eur J Cancer 53:171–180

    Article  Google Scholar 

  5. Nordiqc.org [eingesehen am 01.05.2019]

  6. Shibuya R, Matsuyama A, Nakamoto M, Shiba E, Kasai T, Hisaoka M (2014) The combination of CD99 and NKX2.2, a transcriptional target of EWSR1-FLI1, is highly specific for the diagnosis of Ewing sarcoma. Virchows Arch 465:599–605

    Article  CAS  Google Scholar 

  7. Creytens D (2019) NKX2.2 immunohistochemistry in the distinction of Ewing sarcoma from cytomorphologic mimics: Diagnostic utility and pitfalls - comment on Russell-Goldman et al. Cancer Cytopathol 127(3):202

    Article  Google Scholar 

  8. Bremmer F, Fichtner A, Triefenbach R, Inniger R, Mayer P, Lukat L, Ströbel P, Schildhaus HU (2019) CIC fusion-positive sarcoma of the spermatic cord. Virchows Arch 474:253–257

    Article  CAS  Google Scholar 

  9. Antonescu CR, Owosho AA, Zhang L, Chen S, Deniz K, Huryn JM, Kao YC, Huang SC, Singer S, Tap W, Schaefer IM, Fletcher CD (2017) Sarcomas with CIC-rearrangements are a distinct pathologic entity with aggressive outcome: A clinicopathologic and molecular study of 115 cases. Am J Surg Pathol 41(7):941–949

    Article  Google Scholar 

  10. Italiano A, Sung YS, Zhang L, Singer S, Maki RG, Coindre JM, Antonescu CR (2012) High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas. Genes Chromosomes Cancer 51:207–218

    Article  CAS  Google Scholar 

  11. Machado I, Cruz J, Lavernia J, Rubio L, Campos J, Barrios M et al (2013) Superficial EWSR1-negative undifferentiated small round cell sarcoma with CIC/DUX4 gene fusion: A new variant of Ewing-like tumors with locoregional lymph node metastasis. Virchows Arch 463:837–842

    Article  CAS  Google Scholar 

  12. Specht K, Sung YS, Zhang L, Richter GH, Fletcher CD, Antonescu CR (2014) Distinct transcriptional signature and immunoprofile of CIC-DUX4 fusion-positive round cell tumors compared to EWSR1-rearranged Ewing sarcomas: further evidence toward distinct pathologic entities. Genes Chromosomes Cancer 53:622–633

    Article  CAS  Google Scholar 

  13. Kao YC, Owosho AA, Sung YS, Zhang L, Fujisawa Y, Lee JC, Wexler L, Argani P, Swanson D, Dickson BC, Fletcher CDM, Antonescu CR (2018) BCOR-CCNB3 fusion positive sarcomas: A clinicopathologic and molecular analysis of 36 cases with comparison to morphologic spectrum and clinical behavior of other round cell sarcomas. Am J Surg Pathol 42:604–615

    PubMed  PubMed Central  Google Scholar 

  14. Kao YC, Sung YS, Zhang L, Jungbluth AA, Huang SC, Argani P, Agaram NP, Zin A, Alaggio R, Antonescu CR (2016) BCOR overexpression is a highly sensitive marker in round cell sarcomas with BCOR genetic abnormalities. Am J Surg Pathol 40:1670–1678

    Article  Google Scholar 

  15. Specht K, Zhang L, Sung YS, Nucci M, Dry S, Vaiyapuri S, Richter GHS, Fletcher CDM, Antonescu CR (2016) Novel BCOR-MAML3 and ZC3H7B-BCOR gene fusions in undifferentiated small blue round cell sarcomas. Am J Surg Pathol 40:433–442

    Article  Google Scholar 

  16. Roy A, Kumar V, Zorman B, Fang E, Haines KM, Doddapaneni H, Hampton OA, White S, Bavle AA, Patel NR, Eldin KW, Hicks MJ, Rakheja D, Leavey PJ, Skapek SX, Amatruda JF, Nuchtern JG, Chintagumpala MM, Wheeler DA, Plon SE, Sumazin P, Parsons DW (2015) Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun 6:8891

    Article  CAS  Google Scholar 

  17. Mariño-Enriquez A, Lauria A, Przybyl J, Ng TL, Kowalewska M, Debiec-Rychter M, Ganesan R, Sumathi V, George S, McCluggage WG, Nucci MR, Lee CH, Fletcher JA (2018) BCOR internal tandem duplication in high-grade uterine sarcomas. Am J Surg Pathol 42:335–341

    Article  Google Scholar 

  18. Koelsche C, Kriegsmann M, Kommoss FKF, Stichel D, Kriegsmann K, Vokuhl C, Grünewald TGP, Romero-Pérez L, Kirchner T, de Alava E, Diaz-Martin J, Hartmann W, Baumhoer D, Antonescu CR, Szuhai K, Flucke U, Dirksen U, Pfister SM, Jones DTW, Mechtersheimer G, von Deimling A (2019) DNA methylation profiling distinguishes Ewing-like sarcoma with EWSR1-NFATc2 fusion from Ewing sarcoma. J Cancer Res Clin Oncol 145:1273–1281

    Article  CAS  Google Scholar 

  19. Cummings OW, Ulbright TM, Young RH, Dei Tos AP, Fletcher CD, Hull MT (1997) Desmoplastic small round cell tumors of the paratesticular region. A report of six cases. Am J Surg Pathol 21(2):219–225

    Article  CAS  Google Scholar 

  20. Lal DR, Su WT, Wolden SL, Loh KC, Modak S, La Quaglia MP (2005) Results of multimodal treatment for desmoplastic small round cell tumors. J Pediatr Surg 40:251–255

    Article  Google Scholar 

  21. Rudzinski ER, Anderson JR, Hawkins DS, Skapek SX, Parham DM, Teot LA (2015) The World Health Organization classification of skeletal muscle tumors in pediatric rhabdomyosarcoma. A report from the children’s oncology group. Arch Pathol Lab Med 139:1281–1287

    Article  Google Scholar 

  22. Mentzel T, Kuhnen C (2006) Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new cases. Virchows Arch 449:554–560

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institut für Pathologie, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Deutschland

    H.-U. Schildhaus

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

    M. Evert

Authors
  1. H.-U. Schildhaus
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M. Evert
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding authors

Correspondence to H.-U. Schildhaus or M. Evert.

Ethics declarations

Interessenkonflikt

H.-U. Schildhaus und M. Evert 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

Schildhaus, HU., Evert, M. Rundzellige Sarkome. Pathologe 40, 366–380 (2019). https://doi.org/10.1007/s00292-019-0633-0

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00292-019-0633-0

Schlüsselwörter

Keywords

Search

Navigation