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14.02.2020 | Chondrom | Schwerpunkt: Tumoren des Knochens und der Gelenke

Knorpeltumoren: Morphologie, Genetik und Basisaspekte der Targettherapie

verfasst von: Albert Roessner, Maria Smolle, Victor Schoeder, Johannes Haybaeck

Erschienen in: Die Pathologie | Ausgabe 2/2020

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Zusammenfassung

Knorpeltumoren sind eine heterogene Gruppe von mesenchymalen Tumoren, deren gemeinsames Charakteristikum die Bildung von chondroblastisch differenzierter Grundsubstanz durch die Tumorzellen ist. Die Grundzüge ihrer histologischen Klassifikation wurden bereits in den 1940er-Jahren entwickelt mit Ergänzungen durch weitere Entitäten in den darauffolgenden Jahrzehnten. Grundlegend neue Erkenntnisse wurden dann erst wieder in den vergangenen 10–15 Jahren durch die molekulargenetische Untersuchung gewonnen. So sind die Osteochondrome durch Alterationen im EXT1- und EXT2-Gen charakterisiert. Besonders wichtig ist die Beschreibung von Mutationen der Isocitratdehydrogenase 1 und 2 (IDH1 und 2) in den Chondromen und Chondrosarkomen. Das mesenchymale Chondrosarkom ist durch eine Fusion der Gene HEY1-NCOA2 charakterisiert. Die für die einzelnen Tumorentitäten charakteristischen, molekulargenetischen Alterationen sind zunächst eine wesentliche Ergänzung für die Differenzialdiagnose radiologisch und histologisch schwieriger Fälle. Sie stellen aber darüber hinaus auch die Grundlage zur Etablierung von molekularen Targettherapien für die malignen chondrogenen Tumoren dar. Dies gilt insbesondere für das konventionelle Chondrosarkom, bei dem sich alle Ansätze zu einer Chemo- und Strahlentherapie als wirkungslos erwiesen haben. Allerdings steht hier der Einsatz von Targettherapien noch in den Anfängen.

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Titel: Knorpeltumoren: Morphologie, Genetik und Basisaspekte der Targettherapie
verfasst von: Albert Roessner
Maria Smolle
Victor Schoeder
Johannes Haybaeck
Publikationsdatum: 14.02.2020
Verlag: Springer Medizin
Schlagwörter: Chondrom
Chondrosarkom
Pathologie
Erschienen in: Die Pathologie / Ausgabe 2/2020
Print ISSN: 2731-7188
Elektronische ISSN: 2731-7196
DOI: https://doi.org/10.1007/s00292-020-00752-5

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