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000143492 1001_ $$00000-0001-8763-8864$$aKoelsche, Christian$$b0
000143492 245__ $$aGenome-wide methylation profiling and copy number analysis in atypical fibroxanthomas and pleomorphic dermal sarcomas indicate a similar molecular phenotype.
000143492 260__ $$aLondon$$bBioMed Central$$c2019
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000143492 520__ $$aAtypical fibroxanthomas (AFX) and pleomorphic dermal sarcomas (PDS) are lesions of the skin with overlapping histologic features and unspecific molecular traits. PDS behaves aggressive compared to AFX. Thus, a precise delineation, although challenging in some instances, is relevant.We examined the value of DNA-methylation profiling and copy number analysis for separating these tumors. DNA-methylation data were generated from 17 AFX and 15 PDS using the Illumina EPIC array. These were compared with DNA-methylation data generated from 196 tumors encompassing potential histologic mimics like cutaneous squamous carcinomas (cSCC; n = 19), basal cell carcinomas (n = 10), melanoma metastases originating from the skin (n = 11), leiomyosarcomas (n = 11), angiosarcomas of the skin and soft tissue (n = 11), malignant peripheral nerve sheath tumors (n = 19), dermatofibrosarcomas protuberans (n = 13), extraskeletal myxoid chondrosarcomas (n = 9), myxoid liposarcomas (n = 14), schwannomas (n = 10), neurofibromas (n = 21), alveolar (n = 19) and embryonal (n = 17) rhabdomyosarcomas as well as undifferentiated pleomorphic sarcomas (n = 12).DNA-methylation profiling did not separate AFX from PDS. The DNA-methylation profiles of the other cases, however, were distinct from AFX/PDS. They reliably assigned to subtype-specific DNA-methylation clusters, although overlap occurred between some AFX/PDS and cSCC. Copy number profiling revealed alterations in a similar frequency and distribution between AFX and PDS. They involved losses of 9p (22/32) and 13q (25/32). Gains frequently involved 8q (8/32). Notably, a homozygous deletion of CDKN2A was more frequent in PDS (6/15) than in AFX (2/17), whereas amplifications were non-recurrent and overall rare (5/32).Our findings support the concept that AFX and PDS belong to a common tumor spectrum. We could demonstrate the diagnostic value of DNA-methylation profiling to delineating AFX/PDS from potential mimics. However, the assessment of certain histologic features remains crucial for separating PDS from AFX.
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000143492 7001_ $$0P:(DE-He78)d20d08adc992abdb6ccffa1686f1ba17$$aStichel, Damian$$b1$$eFirst author$$udkfz
000143492 7001_ $$aGriewank, Klaus G$$b2
000143492 7001_ $$0P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc$$aSchrimpf, Daniel$$b3$$udkfz
000143492 7001_ $$0P:(DE-HGF)0$$aReuss, David E$$b4
000143492 7001_ $$0P:(DE-He78)7999346780553d7fab7ba69d5afdfa71$$aBewerunge-Hudler, Melanie$$b5$$udkfz
000143492 7001_ $$aVokuhl, Christian$$b6
000143492 7001_ $$aDinjens, Winand N M$$b7
000143492 7001_ $$aPetersen, Iver$$b8
000143492 7001_ $$aMittelbronn, Michel$$b9
000143492 7001_ $$aCuevas-Bourdier, Adrian$$b10
000143492 7001_ $$aBuslei, Rolf$$b11
000143492 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b12$$udkfz
000143492 7001_ $$aFlucke, Uta$$b13
000143492 7001_ $$aMechtersheimer, Gunhild$$b14
000143492 7001_ $$aMentzel, Thomas$$b15
000143492 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b16$$eLast author$$udkfz
000143492 773__ $$0PERI:(DE-600)2623217-0$$a10.1186/s13569-019-0113-6$$gVol. 9, no. 1, p. 2$$n1$$p2$$tClinical Sarcoma Research$$v9$$x2045-3329$$y2019
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