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Molekulare Methoden in der Sarkomdiagnostik

Molecular methods in the diagnosis of sarcoma

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Zusammenfassung

Die Nutzung moderner molekularbiologischer Methoden hat in den letzten Jahren in der Sarkomdiagnostik an Bedeutung gewonnen. Jede der hier beschriebenen analytischen Methoden hat ihre spezifischen Vorteile, aber auch Anforderungen an das Untersuchungsmaterial. Zytogenetische Screening-Methoden geben Auskunft über das gesamte Genom, Nachteil ist der Bedarf an Frischgewebe. Durch Fluoreszenz-in-situ-Hybridisierung und Real-time-Polymerase-Ketten-Reaktion können spezifische genetische Ereignisse, wie Translokationen im Ewing-Sarkom, im Synovialsarkom oder im alveolären Rhabdomyosarkom in frischen und formalinfixierten Geweben detektiert werden, aber auch Genamplifikationen im hochdifferenzierten und dedifferenzierten Liposarkom oder strahleninduzierten Angiosarkom sowie Deletionen im Rhabdoidtumor und im hochdifferenzierten spindelzelligen Liposarkom. Molekularbiologische Methoden wie Sanger-Sequenzierung, Pyrosequenzierung und die hochauflösende Schmelzpunktanalyse können zur Aufdeckung spezifischer molekularer Aberrationen auf Genebene beitragen. Dieser Artikel gibt eine Übersicht über die wichtigsten molekularbiologischen Methoden, die zurzeit in der Sarkomdiagnostik genutzt werden, ihre Bedeutung für die Differenzialdiagnose dieser Tumoren und zeigt Anwendungsbeispiele auf.

Abstract

The use of modern molecular techniques has gained importance in the diagnosis of sarcomas in recent years. Each of the analytical methods discussed here has its unique advantages and specific requirements. Cytogenetic screening methods which provide genome-wide information depend on the availability of fresh tissue. With the aid of fluorescence in situ hybridization and RT-polymerase chain reaction, specific events such as translocations in Ewing sarcoma, synovial sarcoma or alveolar rhabdomyosarcoma, as well as gene amplifications in well-differentiated and dedifferentiated liposarcoma or radiation-induced angiosarcoma and deletions in rhabdoid tumors or well-differentiated spindle cell liposarcoma can be detected in fresh and formalin fixed tissues. Molecular methods including Sanger sequencing, pyrosequencing and high resolution melting provide information about specific molecular aberrations on gene level. Here we review the most important molecular techniques currently used in sarcoma diagnosis, describe their relevance for differential diagnosis and point out specific examples.

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  1. Institut für Pathologie, Universitätsklinikum Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Deutschland

    S. Merkelbach-Bruse, E. Wardelmann, H. Künstlinger, R. Büttner & H.-U. Schildhaus

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  1. S. Merkelbach-Bruse
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  2. E. Wardelmann
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  3. H. Künstlinger
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  4. R. Büttner
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  5. H.-U. Schildhaus
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Correspondence to S. Merkelbach-Bruse.

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Merkelbach-Bruse, S., Wardelmann, E., Künstlinger, H. et al. Molekulare Methoden in der Sarkomdiagnostik. Pathologe 32, 24–31 (2011). https://doi.org/10.1007/s00292-010-1395-x

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  • DOI: https://doi.org/10.1007/s00292-010-1395-x

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