Copy number variations in atypical fibroxanthomas and pleomorphic dermal sarcomas
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Doris Helbig1, Alexander Quaas2, Cornelia Mauch1, Sabine Merkelbach-Bruse2, Reinhard Büttner2, Michael Emberger3, Marion Wobser4, Vanessa Rüsseler2, Katharina Pütz2, Elke Binot2, Jan Rehker2, Jan Budczies5 and Michaela Angelika Ihle2
1Department of Dermatology, University Hospital Cologne, Cologne, Germany
2Institute of Pathology, University Hospital Cologne, Cologne, Germany
3Institute of Pathology, Salzburg, Austria
4Department of Dermatology, University Hospital Würzburg, Würzburg, Germany
5Institute of Pathology, Charité University Hospital, Berlin, Germany
Doris Helbig, email: [email protected]
Keywords: atypical fibroxanthoma; BRAF; copy number variation; pleomorphic dermal sarcoma
Received: October 19, 2017 Accepted: November 13, 2017 Published: November 25, 2017
Atypical fibroxanthomas (AFX) and pleomorphic dermal sarcomas (PDS) are frequent cutaneous sarcomas typically arising on sun-exposed skin in elderly patients. In contrast to AFX, which generally do not recur after complete excision, PDS locally recur in up to 50% and metastasize in up to 20%.
We recently detected characteristic UV-induced TP53 mutations as potential driver mutation in almost all PDS investigated as well as activating PIK3CA and RAS gene mutations in around one third of our tumors representing targets for personalized treatments in patients with unresectable or metastasized PDS.
In the present study, we identified amplifications and deletions in a small part of the PDS (6 of 27 cases) but not in AFX suggesting that copy number variations (CNV) might not be an initial event in tumor development but rather important during tumor progression. In addition to BRAF, KNSTRN, IDH1 and PDGFRA amplification, CNV analyses revealed deletions in the CDKN2A, KIT and PDGFRA genes. In cases where an appropriate FISH assay was established, the CNV results could be verified by FISH analysis.
Amplification of BRAF, KIT or PDGFRA and/or losses of CDKN2A might represent bad prognostic markers, although larger studies are needed to clarify their association with prognosis or progression in PDS.
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