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Neue molekulare Aspekte der Chordome

Novel molecular aspects of chordomas

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Zusammenfassung

Chordome sind sehr seltene und langsam wachsende maligne Knochentumoren zumeist des Erwachsenenalters. Dieser Knochentumor ist durch epitheliale und mesenchymale Merkmale gekennzeichnet. Es wird angenommen, dass sich die Chordome aus Resten der Chorda dorsalis entwickeln, da sie sind entlang des Achsenskeletts zu finden sind (Klivus, spinal, sakrokokzygeal). Zytogenetische Veränderungen scheinen nicht zufällig in dieser Tumorgruppe vorzukommen. Die Verluste von chromosomalem Material (1p; 3p; 10q; 13q; 14q) finden sich häufiger als Zugewinne (7q, insbesondere 7q33). In verschiedenen Studien konnte Brachyury (T; 6q27) als mögliches Kandidaten-Gen für die Chordomentstehung bestätigt werden („knocked down“ in der Chordomzelllinie U-CH1). Die Therapie besteht zumeist aus einer möglichst kompletten Resektion und Bestrahlung, z. B. mit Schwerionen. Neue zielgerichtete therapeutische Ansätze sind noch nicht etabliert, wenngleich hierzu erste Phase-II-Studien mit Tyrosinkinaseinhibitoren vorliegen.

Abstract

Chordomas are rare and slowly growing malignant bone tumors which mostly occur in adults. These bone tumors are characterized by epithelial and mesenchymal aspects. It is suggested that they arise from remnants of the notochord because they are found along the axial skeleton (e.g. clival, spinal and sacrococcygeal locations). It appears that cytogenetic aberrations are not randomly found in this tumor group. Loss of chromosomal material (e.g. 1p, 3p, 10q, 13q and 14q) is more frequently found than gain of material (e.g. 7q, especially 7q33). Several studies demonstrated brachyury expression (T; 6q27) as a possible candidate gene in the oncogenesis of chordomas (e.g. knock down in the chordoma cell line U-CH1). So far therapy consists of complete resection and irradiation, e.g. with carbon ions. Targeting therapy is not yet established in routine protocols but phase II studies with tyrosine kinase inhibitors have shown partial response of tumors and, in some studies stabilization of the disease has been described.

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Einhaltung ethischer Richtlinien

Interessenkonflikt. S. Scheil-Bertram gibt an, dass kein Interessenkonflikt besteht. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

Danksagung

Herrn Prof. M. Schulte, Rotenburg (Wümme), Herrn Prof. H. Ostertag, Hannover, und Frau Dr. Birgit Bassaly, Giessen, möchte ich für die Unterstützung bei den Abbildungen ganz herzlich danken.

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  1. Institut für Pathologie und Zytologie, Dr. Horst Schmidt Klinik GmbH, Ludwig-Erhard-Str. 100, 65199, Wiesbaden, Deutschland

    S. Scheil-Bertram

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Correspondence to S. Scheil-Bertram.

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Scheil-Bertram, S. Neue molekulare Aspekte der Chordome. Pathologe 35 (Suppl 2), 237–241 (2014). https://doi.org/10.1007/s00292-014-1986-z

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  • DOI: https://doi.org/10.1007/s00292-014-1986-z

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