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    Unique correlation between GTF2I mutation and spindle cell morphology in thymomas (type A and AB thymomas)

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    Authors
    Wells, K
    Lamarca, Angela
    Papaxoinis, G
    Wallace, A
    Quinn, A M
    Summers, Yvonne J
    Nonaka, D
    Affiliation
    Genomic Diagnostic Laboratory, Manchester Centre for Genomic Medicine, Manchester, UK
    Issue Date
    2022
    
    Metadata
    Show full item record
    Abstract
    "Aim: Recent study has revealed frequent GTF2I mutation in thymomas, with the frequency being highest in types A and AB, followed by B1, B2, B3 and thymic carcinoma. This has led to the conclusion that GTF2I mutation correlates with more indolent histology subtype and better prognosis. In our study, the GTF2I mutation was tested in thymic epithelial tumours to investigate the relation between the mutation status and histology subtype. Methods: The GTF2I mutation was tested in 111 thymic epithelial tumours by Sanger sequencing. Correlations between GTF2I mutation status and clinicopathological parameters were evaluated. Results: There were 16 cases of type A, including atypical type, 37 type AB, 13 B1, 23 B2, 9 B3, 6 micronodular type, 2 metaplastic type and 5 thymic carcinomas. GTF2I mutation was seen in 78.6% of type A and 83.9% of type AB, while it was not expressed in type B, metaplastic type or thymic carcinoma (p<0.001). 75% of micronodular type also showed the mutation. Both thymoma histotype and stage were significantly associated with GTF2I mutation by univariate analysis. The presence of GTF2I mutation showed a trend towards a favourable prognosis, but this is likely due to their strong association with more indolent histologic subtypes (types A and AB). Conclusions: GTF2I mutation appears unique in type A and AB thymomas, including those with atypical features and micronodular type, all of which share spindle cell morphology, indicating they represent a group biologically distinct from type B thymomas."
    Citation
    Wells, K, Lamarca, Angela, Papaxoinis, G, Wallace, A, Quinn, A M, Summers, Yvonne J, Nonaka, D. Unique correlation between GTF2I mutation and spindle cell morphology in thymomas (type A and AB thymomas). Journal of Clinical Pathology. 2022 .
    Journal
    Journal of Clinical Pathology
    URI
    http://hdl.handle.net/10541/625203
    DOI
    10.1136/jclinpath-2021-207837
    PubMed ID
    35039450
    Additional Links
    https://dx.doi.org/10.1136/jclinpath-2021-207837
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.1136/jclinpath-2021-207837
    Scopus Count
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