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.
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.
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Böhmer, V., Köhler, G. Aktueller Stand der Molekularpathologie von Knochentumoren. Onkologe 19, 629–634 (2013). https://doi.org/10.1007/s00761-013-2479-z
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DOI: https://doi.org/10.1007/s00761-013-2479-z