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Molecular pathology of thymomas: implications for diagnosis and therapy

Thymomas exhibit a unique genomic landscape, comprising the lowest on average total mutational burden among adult human cancers; a unique point mutation in the GTF2I gene in WHO type A and AB thymomas (and rarely others); almost unique KMT2A-MAML2 translocations in rare WHO type B2 and B3 thymomas;...

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Main Authors: Marx, Alexander (Author) , Belharazem, Djeda (Author) , Lee, De-Hyung (Author) , Popovic, Zoran V. (Author) , Reißfelder, Christoph (Author) , Schalke, Berthold (Author) , Schölch, Sebastian (Author) , Ströbel, Philipp (Author) , Weis, Cleo-Aron Thias (Author) , Yamada, Yosuke (Author)
Format: Article (Journal)
Language:English
Published: 5 March 2021
In: Virchows Archiv
Year: 2021, Volume: 478, Issue: 1, Pages: 101-110
ISSN:1432-2307
DOI:10.1007/s00428-021-03068-8
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s00428-021-03068-8
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Author Notes:Alexander Marx, Djeda Belharazem, De-Hyung Lee, Zoran V. Popovic, Christoph Reißfelder, Berthold Schalke, Sebastian Schölch, Philipp Ströbel, Cleo-Aron Weis, Yosuke Yamada
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Summary:Thymomas exhibit a unique genomic landscape, comprising the lowest on average total mutational burden among adult human cancers; a unique point mutation in the GTF2I gene in WHO type A and AB thymomas (and rarely others); almost unique KMT2A-MAML2 translocations in rare WHO type B2 and B3 thymomas; a unique YAP1-MAML2 translocation in almost all metaplastic thymomas; and unique miRNA profiles in relation to GTF2I mutational status and WHO histotypes. While most thymomas can be diagnosed solely on the basis of morphological features, mutational analyses can solve challenging differential diagnostic problems. No molecular biomarkers have been identified that predict the response of unresectable thymomas to chemotherapy or agents with known molecular targets. Despite the common and strong expression of PDL1 in thymomas, immune checkpoint inhibitors are rarely applicable due to the poor predictability of common, life-threatening autoimmune side effects that are related to the unrivaled propensity of thymomas towards autoimmunity.
Item Description:Gesehen am 12.05.2021
Physical Description:Online Resource
ISSN:1432-2307
DOI:10.1007/s00428-021-03068-8

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