Molecular pathology of thymomas: implications for diagnosis and therapy.
AIRE
Immune checkpoint inhibitors
MicroRNA
Microsatellite instability
Myasthenia gravis
SMARCA4
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
received:
23
11
2020
accepted:
24
02
2021
revised:
04
02
2021
pubmed:
7
3
2021
medline:
19
3
2021
entrez:
6
3
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33674910
doi: 10.1007/s00428-021-03068-8
pii: 10.1007/s00428-021-03068-8
pmc: PMC7966134
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
101-110Références
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