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| Home > Publications database > Genome-wide methylation profiling and copy number analysis in atypical fibroxanthomas and pleomorphic dermal sarcomas indicate a similar molecular phenotype. > print |
| Home > Publications database > Genome-wide methylation profiling and copy number analysis in atypical fibroxanthomas and pleomorphic dermal sarcomas indicate a similar molecular phenotype. > print |
| 001 | 143492 | ||
| 005 | 20240229112554.0 | ||
| 024 | 7 | _ | |a 10.1186/s13569-019-0113-6 |2 doi |
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| 037 | _ | _ | |a DKFZ-2019-01079 |
| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Koelsche, Christian |0 0000-0001-8763-8864 |b 0 |
| 245 | _ | _ | |a Genome-wide methylation profiling and copy number analysis in atypical fibroxanthomas and pleomorphic dermal sarcomas indicate a similar molecular phenotype. |
| 260 | _ | _ | |a London |c 2019 |b BioMed Central |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1555483884_21738 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a Atypical 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. |
| 536 | _ | _ | |a 312 - Functional and structural genomics (POF3-312) |0 G:(DE-HGF)POF3-312 |c POF3-312 |f POF III |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 700 | 1 | _ | |a Stichel, Damian |0 P:(DE-He78)d20d08adc992abdb6ccffa1686f1ba17 |b 1 |e First author |u dkfz |
| 700 | 1 | _ | |a Griewank, Klaus G |b 2 |
| 700 | 1 | _ | |a Schrimpf, Daniel |0 P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc |b 3 |u dkfz |
| 700 | 1 | _ | |a Reuss, David E |0 P:(DE-HGF)0 |b 4 |
| 700 | 1 | _ | |a Bewerunge-Hudler, Melanie |0 P:(DE-He78)7999346780553d7fab7ba69d5afdfa71 |b 5 |u dkfz |
| 700 | 1 | _ | |a Vokuhl, Christian |b 6 |
| 700 | 1 | _ | |a Dinjens, Winand N M |b 7 |
| 700 | 1 | _ | |a Petersen, Iver |b 8 |
| 700 | 1 | _ | |a Mittelbronn, Michel |b 9 |
| 700 | 1 | _ | |a Cuevas-Bourdier, Adrian |b 10 |
| 700 | 1 | _ | |a Buslei, Rolf |b 11 |
| 700 | 1 | _ | |a Pfister, Stefan |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 12 |u dkfz |
| 700 | 1 | _ | |a Flucke, Uta |b 13 |
| 700 | 1 | _ | |a Mechtersheimer, Gunhild |b 14 |
| 700 | 1 | _ | |a Mentzel, Thomas |b 15 |
| 700 | 1 | _ | |a von Deimling, Andreas |0 P:(DE-He78)a8a10626a848d31e70cfd96a133cc144 |b 16 |e Last author |u dkfz |
| 773 | _ | _ | |a 10.1186/s13569-019-0113-6 |g Vol. 9, no. 1, p. 2 |0 PERI:(DE-600)2623217-0 |n 1 |p 2 |t Clinical Sarcoma Research |v 9 |y 2019 |x 2045-3329 |
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