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| 001 | 156763 | ||
| 005 | 20240229123115.0 | ||
| 024 | 7 | _ | |a 10.1186/s40478-020-00978-7 |2 doi |
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| 100 | 1 | _ | |a Appay, Romain |b 0 |
| 245 | _ | _ | |a Diffuse leptomeningeal glioneuronal tumor: a double misnomer? A report of two cases. |
| 260 | _ | _ | |a London |c 2020 |b Biomed Central |
| 336 | 7 | _ | |a article |2 DRIVER |
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| 520 | _ | _ | |a Diffuse leptomeningeal glioneuronal tumor (DLGNT) was introduced, for the first time, as a provisional entity in the 2016 WHO classification of central nervous system tumors. DLGNT mainly occur in children and characterized by a widespread leptomeningeal growth occasionally associated with intraspinal tumor nodules, an oligodendroglial-like cytology, glioneuronal differentiation and MAP-Kinase activation associated with either solitary 1p deletion or 1p/19q codeletion in the absence of IDH mutation.We report here two unexpected DLGNTs adult cases, characterized by a unique supratentorial circumscribed intraparenchymal tumor without leptomeningeal involvement in spite of long follow-up. In both cases, the diagnosis of DLGNT was made after DNA-methylation profiling which demonstrated that one case belonged to the DLGNT class whereas the other remained not classifiable but showed on CNV the characteristic genetic findings recorded in DLGNT. Both cases harbored 1p/19q codeletion associated with KIAA1549:BRAF fusion in one case and with BRAF V600E and PIK3CA E545A mutations, in the other.Our study enlarges the clinical and molecular spectrum of DLGNTs, and points out that the terminology of DLGNTs is not fully appropriate since some cases could have neither diffuse growth nor leptomeningeal dissemination. This suggests that DLGNTs encompass a wide spectrum of tumors that has yet to be fully clarified. |
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| 700 | 1 | _ | |a Pages, Mélanie |b 1 |
| 700 | 1 | _ | |a Colin, Carole |b 2 |
| 700 | 1 | _ | |a Jones, David T W |0 P:(DE-He78)551bb92841f634070997aa168d818492 |b 3 |u dkfz |
| 700 | 1 | _ | |a Varlet, Pascale |b 4 |
| 700 | 1 | _ | |a Figarella-Branger, Dominique |0 0000-0002-3604-887X |b 5 |
| 773 | _ | _ | |a 10.1186/s40478-020-00978-7 |g Vol. 8, no. 1, p. 95 |0 PERI:(DE-600)2715589-4 |n 1 |p 95 |t Acta Neuropathologica Communications |v 8 |y 2020 |x 2051-5960 |
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