Copy number variations in atypical fibroxanthomas and pleomorphic dermal sarcomas.

摘要: Atypical fibroxanthomas (AFX) and pleomorphic dermal sarcomas (PDS) are frequent cutaneous typically arising on sun-exposed skin in elderly patients. In contrast to AFX, which generally do not recur after complete excision, PDS locally up 50% metastasize 20%. We recently detected characteristic UV-induced TP53 mutations as potential driver mutation almost all investigated well activating PIK3CA RAS gene around one third of our tumors representing targets for personalized treatments patients with unresectable or metastasized PDS. the present study, we identified amplifications deletions a small part (6 27 cases) but AFX suggesting that copy number variations (CNV) might be an initial event tumor development rather important during progression. addition BRAF, KNSTRN, IDH1 PDGFRA amplification, CNV analyses revealed CDKN2A, KIT genes. cases where appropriate FISH assay was established, results could verified by analysis. Amplification and/or losses CDKN2A represent bad prognostic markers, although larger studies needed clarify their association prognosis progression