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| Home > Publications database > Primary CNS Alveolar Rhabdomyosarcoma: Importance of Epigenetic and Transcriptomic Assays for Accurate Diagnosis. > print |
| 001 | 147225 | ||
| 005 | 20240229112643.0 | ||
| 024 | 7 | _ | |a 10.1093/jnen/nlz083 |2 doi |
| 024 | 7 | _ | |a pmid:31553442 |2 pmid |
| 024 | 7 | _ | |a 0022-3069 |2 ISSN |
| 024 | 7 | _ | |a 1554-6578 |2 ISSN |
| 024 | 7 | _ | |a altmetric:67160394 |2 altmetric |
| 037 | _ | _ | |a DKFZ-2019-02351 |
| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Jour, George |b 0 |
| 245 | _ | _ | |a Primary CNS Alveolar Rhabdomyosarcoma: Importance of Epigenetic and Transcriptomic Assays for Accurate Diagnosis. |
| 260 | _ | _ | |a Philadelphia, Pa. [u.a.] |c 2019 |b Lippincott Williams & Wilkins |
| 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 1577095152_15304 |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 We present the case of a 22-year-old woman who developed increasing headaches, nausea, and vomiting. Imaging identified a 3 × 3 cm heterogeneously enhancing cystic mass in the posterior III ventricular/pineal region. Pathology review of the initial lesion revealed a highly malignant spindle cell neoplasm composed of round to mostly oval elongated cells with relatively small amounts of cytoplasm arranged in sheets and fascicles with focal storiform pattern. Whole genome methylation analysis through unsupervised clustering with data generated from other primary intracranial tumors and peripheral sarcomas was performed at the German Cancer Research Center (DKFZ) and classified the tumor with the group of alveolar rhabdomyosarcomas (ARMS). Further RNA sequencing revealed an in frame PAX3 (EX 7)-NCOA2 (EX12) fusion confirming the diagnosis. This is the first evidence of occurrence of PAX3-NCOA2 in primary CNS ARMS. |
| 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 Serrano, Jonathan |b 1 |
| 700 | 1 | _ | |a Koelsche, Christian |b 2 |
| 700 | 1 | _ | |a Jones, David T W |0 P:(DE-He78)551bb92841f634070997aa168d818492 |b 3 |u dkfz |
| 700 | 1 | _ | |a von Deimling, Andreas |b 4 |
| 700 | 1 | _ | |a Allen, Jeffrey |b 5 |
| 700 | 1 | _ | |a Snuderl, Matija |b 6 |
| 773 | _ | _ | |a 10.1093/jnen/nlz083 |g Vol. 78, no. 11, p. 1073 - 1075 |0 PERI:(DE-600)2033048-0 |n 11 |p 1073 - 1075 |t Journal of neuropathology and experimental neurology |v 78 |y 2019 |x 1554-6578 |
| 909 | C | O | |p VDB |o oai:inrepo02.dkfz.de:147225 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 3 |6 P:(DE-He78)551bb92841f634070997aa168d818492 |
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