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Potentially actionable FGFR2 high-level amplification in thymic sebaceous carcinoma

Porubsky, S, Jessup, P, Kee, D, Sharma, R, Ochi, A, Xu, H, Froelich, JJ, Nott, L, Scott, C, Awad, R, Moldovan, C, Hardikar, AA, Bohnenberger, H, Kuffer, S, Strobel, P and Marx, A 2019 , 'Potentially actionable FGFR2 high-level amplification in thymic sebaceous carcinoma' , Virchows Archiv , pp. 1-5 , doi: 10.1007/s00428-019-02644-3.

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Abstract

Our aim was to investigate sebaceous differentiation in thymus tumours and to identify new actionable genomic alterations. To this end we screened 35 normal and 23 hyperplastic thymuses, 127 thymomas and 41 thymic carcinomas for the presence of sebaceous differentiation as defined by morphology and expression of adipophilin and androgen receptor (AR). One primary thymic carcinoma showed morphology of sebaceous carcinomas (keratinizing and foam cells, calcifications, giant cells), a strong expression of adipophilin and AR together with squamous markers. NGS revealed high-level amplification of fibroblast growth factor receptor 2 (FGFR2). In thymuses and thymomas, no cells with sebaceous morphology were present. Occasionally, macrophages or epithelial cells showed adipophilin-positivity, however, without co-expression of AR. Thymic sebaceous carcinoma should be considered if a thymic carcinoma shows clear or foamy features. Testing for FGFR2 amplification might be warranted when searching for actionable genomic alterations in sebaceous carcinomas in the mediastinum and in other locations.

Item Type: Article
Authors/Creators:Porubsky, S and Jessup, P and Kee, D and Sharma, R and Ochi, A and Xu, H and Froelich, JJ and Nott, L and Scott, C and Awad, R and Moldovan, C and Hardikar, AA and Bohnenberger, H and Kuffer, S and Strobel, P and Marx, A
Keywords: adipophilin, BRCA2, FGFR2, sebaceous carcinoma, thymus carcinoma
Journal or Publication Title: Virchows Archiv
Publisher: Springer-Verlag
ISSN: 0945-6317
DOI / ID Number: 10.1007/s00428-019-02644-3
Copyright Information:

Copyright 2019 Springer-Verlag GmbH Germany, part of Springer Nature

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