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| 005 | 20240229105111.0 | ||
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| 024 | 7 | _ | |a 1432-0533 |2 ISSN |
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| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Stichel, Damian |0 P:(DE-He78)d20d08adc992abdb6ccffa1686f1ba17 |b 0 |e First author |
| 245 | _ | _ | |a Distribution of EGFR amplification, combined chromosome 7 gain and chromosome 10 loss, and TERT promoter mutation in brain tumors and their potential for the reclassification of IDHwt astrocytoma to glioblastoma. |
| 260 | _ | _ | |a Berlin |c 2018 |b Springer |
| 336 | 7 | _ | |a article |2 DRIVER |
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| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a EGFR amplification (EGFRamp), the combination of gain of chromosome 7 and loss of chromosome 10 (7+/10-), and TERT promoter mutation (pTERTmut) are alterations frequently observed in adult IDH-wild-type (IDHwt) glioblastoma (GBM). In the absence of endothelial proliferation and/or necrosis, these alterations currently are considered to serve as a surrogate for upgrading IDHwt diffuse or anaplastic astrocytoma to GBM. Here, we set out to determine the distribution of EGFRamp, 7+/10-, and pTERTmut by analyzing high-resolution copy-number profiles and next-generation sequencing data of primary brain tumors. In addition, we addressed the question whether combinations of partial gains on chromosome 7 and partial losses on chromosome 10 exhibited a diagnostic and prognostic value similar to that of complete 7+/10-. Several such combinations proved relevant and were combined as the 7/10 signature. Our results demonstrate that EGFRamp and the 7/10 signature are closely associated with IDHwt GBM. In contrast, pTERTmut is less specific for IDHwt GBM. We conclude that, in the absence of endothelial proliferation and/or necrosis, the detection of EGFRamp is a very strong surrogate marker for the diagnosis of GBM in IDHwt diffuse astrocytic tumors. The 7/10 signature is also a strong surrogate marker. However, care should be taken to exclude pleomorphic xanthoastrocytoma. pTERTmut is less restricted to this entity and needs companion analysis by other molecular markers to serve as a surrogate for diagnosing IDHwt GBM. A combination of any two of EGFRamp, the 7/10 signature and pTERTmut, is highly specific for IDHwt GBM and the combination of all three alterations is frequent and exclusively seen in IDHwt GBM. |
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| 700 | 1 | _ | |a Ebrahimi, Azadeh |0 P:(DE-HGF)0 |b 1 |e First author |
| 700 | 1 | _ | |a Reuss, David |0 P:(DE-HGF)0 |b 2 |
| 700 | 1 | _ | |a Schrimpf, Daniel |0 P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc |b 3 |
| 700 | 1 | _ | |a Ono, Takahiro |b 4 |
| 700 | 1 | _ | |a Shirahata, Mitsuaki |b 5 |
| 700 | 1 | _ | |a Reifenberger, Guido |0 P:(DE-HGF)0 |b 6 |
| 700 | 1 | _ | |a Weller, Michael |b 7 |
| 700 | 1 | _ | |a Hänggi, Daniel |b 8 |
| 700 | 1 | _ | |a Wick, Wolfgang |0 P:(DE-He78)92e9783ca7025f36ce14e12cd348d2ee |b 9 |
| 700 | 1 | _ | |a Herold-Mende, Christel |b 10 |
| 700 | 1 | _ | |a Westphal, Manfred |b 11 |
| 700 | 1 | _ | |a Brandner, Sebastian |b 12 |
| 700 | 1 | _ | |a Pfister, Stefan |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 13 |
| 700 | 1 | _ | |a Capper, David |0 P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c |b 14 |
| 700 | 1 | _ | |a Sahm, Felix |0 P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88 |b 15 |
| 700 | 1 | _ | |a von Deimling, Andreas |0 P:(DE-He78)a8a10626a848d31e70cfd96a133cc144 |b 16 |e Last author |
| 773 | _ | _ | |a 10.1007/s00401-018-1905-0 |0 PERI:(DE-600)1458410-4 |n 5 |p 793-803 |t Acta neuropathologica |v 136 |y 2018 |x 1432-0533 |
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