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| 024 | 7 | _ | |a 10.1186/s40478-021-01296-2 |2 doi |
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| 037 | _ | _ | |a DKFZ-2021-03097 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Shatara, Margaret |b 0 |
| 245 | _ | _ | |a Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas. |
| 260 | _ | _ | |a London |c 2021 |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 1639560449_15403 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
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| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a Primary spinal cord tumors contribute to ≤ 10% of central nervous system tumors in individuals of pediatric or adolescent age. Among intramedullary tumors, spinal ependymomas make up ~ 30% of this rare tumor population. A twelve-year-old male presented with an intradural, extramedullary mass occupying the dorsal spinal canal from C6 through T2. Gross total resection and histopathology revealed a World Health Organization (WHO) grade 2 ependymoma. He recurred eleven months later with extension from C2 through T1-T2. Subtotal resection was achieved followed by focal proton beam irradiation and chemotherapy. Histopathology was consistent with WHO grade 3 ependymoma. Molecular profiling of the primary and recurrent tumors revealed a novel amplification of the MYC (8q24) gene, which was confirmed by fluorescence in situ hybridization studies. Although MYC amplification in spinal ependymoma is exceedingly rare, a newly described classification of spinal ependymoma harboring MYCN (2p24) amplification (SP-MYCN) has been defined by DNA methylation-array based profiling. These individuals typically present with a malignant progression and dismal outcomes, contrary to the universally excellent survival outcomes seen in other spinal ependymomas. DNA methylation array-based classification confidently classified this tumor as SP-MYCN ependymoma. Notably, among the cohort of 52 tumors comprising the SP-MYCN methylation class, none harbor MYC amplification, highlighting the rarity of this genomic amplification in spinal ependymoma. A literature review comparing our individual to reported SP-MYCN tumors (n = 26) revealed similarities in clinical, histopathologic, and molecular features. Thus, we provide evidence from a single case to support the inclusion of MYC amplified spinal ependymoma within the molecular subgroup of SP-MYCN. |
| 536 | _ | _ | |a 312 - Funktionelle und strukturelle Genomforschung (POF4-312) |0 G:(DE-HGF)POF4-312 |c POF4-312 |f POF IV |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: inrepo01.inet.dkfz-heidelberg.de |
| 650 | _ | 7 | |a Amplification |2 Other |
| 650 | _ | 7 | |a DNA methylation array |2 Other |
| 650 | _ | 7 | |a Ependymoma |2 Other |
| 650 | _ | 7 | |a FISH |2 Other |
| 650 | _ | 7 | |a MYC |2 Other |
| 650 | _ | 7 | |a MYCN |2 Other |
| 650 | _ | 7 | |a Pediatric |2 Other |
| 650 | _ | 7 | |a Spinal |2 Other |
| 700 | 1 | _ | |a Schieffer, Kathleen M |0 0000-0002-2688-8680 |b 1 |
| 700 | 1 | _ | |a Klawinski, Darren |b 2 |
| 700 | 1 | _ | |a Thomas, Diana L |b 3 |
| 700 | 1 | _ | |a Pierson, Christopher R |b 4 |
| 700 | 1 | _ | |a Sribnick, Eric A |b 5 |
| 700 | 1 | _ | |a Jones, Jeremy |b 6 |
| 700 | 1 | _ | |a Rodriguez, Diana P |b 7 |
| 700 | 1 | _ | |a Deeg, Carol |b 8 |
| 700 | 1 | _ | |a Hamelberg, Elizabeth |b 9 |
| 700 | 1 | _ | |a LaHaye, Stephanie |b 10 |
| 700 | 1 | _ | |a Miller, Katherine E |b 11 |
| 700 | 1 | _ | |a Fitch, James |b 12 |
| 700 | 1 | _ | |a Kelly, Benjamin |b 13 |
| 700 | 1 | _ | |a Leraas, Kristen |b 14 |
| 700 | 1 | _ | |a Pfau, Ruthann |b 15 |
| 700 | 1 | _ | |a White, Peter |b 16 |
| 700 | 1 | _ | |a Magrini, Vincent |b 17 |
| 700 | 1 | _ | |a Wilson, Richard K |b 18 |
| 700 | 1 | _ | |a Mardis, Elaine R |b 19 |
| 700 | 1 | _ | |a Abdelbaki, Mohamed S |b 20 |
| 700 | 1 | _ | |a Finlay, Jonathan L |b 21 |
| 700 | 1 | _ | |a Boué, Daniel R |b 22 |
| 700 | 1 | _ | |a Cottrell, Catherine E |b 23 |
| 700 | 1 | _ | |a Ghasemi, David R |0 P:(DE-HGF)0 |b 24 |
| 700 | 1 | _ | |a Pajtler, Kristian W |0 P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d |b 25 |u dkfz |
| 700 | 1 | _ | |a Osorio, Diana S |b 26 |
| 773 | _ | _ | |a 10.1186/s40478-021-01296-2 |g Vol. 9, no. 1, p. 192 |0 PERI:(DE-600)2715589-4 |n 1 |p 192 |t Acta Neuropathologica Communications |v 9 |y 2021 |x 2051-5960 |
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