Der Onkologe

, Volume 19, Issue 8, pp 629–634

Aktueller Stand der Molekularpathologie von Knochentumoren

Leitthema
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Zusammenfassung

Diagnostik

Die morphologische Diagnose von Knochentumoren stellt oft eine Herausforderung dar. Molekularpathologisch sind bei der Routinediagnostik von Knochentumoren bisher zwei spezifische genetische Veränderungen von Bedeutung: zum einen die Detektion der EWSR1-Translokation bei Ewing-Sarkomen, zum anderen die GNAS1-Mutationsanalyse bei fibröser Dysplasie. Sensitivere und schnellere Techniken ermöglichen jedoch eine bessere Detektion von spezifischen genetischen Veränderungen bei Knochentumoren.

Ergebnisse und Schlussfolgerung

So lassen sich bei vielen anderen Knochentumoren spezifische Translokationen und Mutationen feststellen, mit denen sich in Zukunft die Diagnose anhand des morphologischen Bilds durch den molekularpathologischen Nachweis dieser spezifischen genetischen Veränderung unterstützen lässt. Manche Tumoren, wie z. B. das Osteosarkom, weisen jedoch eine generell hohe genetische Instabilität mit zahlreichen, nichtspezifischen genetischen Veränderungen auf.

Schlüsselwörter

Translokation Mutation Ewing-Sarkom Osteosarkom Chondrosarkom 

Current state of molecular pathology of bone tumors

Abstract

Diagnosis

The morphological diagnosis of bone tumors can often be challenging. In molecular pathology only two genetic aberrations are used in routine diagnostics of bone tumors: the detection of the EWSR1 translocation in Ewing’s sarcoma and the GNAS1 mutation analysis in fibrous dysplasia. Faster and more sensitive techniques allow the identification of specific genetic aberrations in many bone tumors.

Results and conclusion

This will help support the diagnosis of bone tumors by identification of these specific translocations and mutations with the help of molecular pathology. However, some tumors, such as osteosarcomas, show a high genetic instability without recurrent genetic abnormalities.

Keywords

Translocation Mutation Ewing’s sarcoma Osteosarcoma Chondrosarcoma 

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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  1. 1.Gerhard-Domagk-Institut für PathologieUniversitätsklinikum MünsterMünsterDeutschland

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