Refinement of diagnostic criteria for pediatric-type diffuse high-grade glioma, IDH- and H3-wildtype, MYCN-subtype including histopathology, TP53, MYCN and ID2 status

Because a subset of pHGG-MYCN have been found to harbor an amplification of the ID2 gene with (12/36, 33%) or without (1/36, 3%) a concomitant MYCN amplification (MYCN+/ID2+) [2], we have formulated a FISH (Fluorescence in situ hybridization) technique that targets both loci. DNA-methylation analysi...

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Veröffentlicht in:Acta neuropathologica communications 2023-10, Vol.11 (1), p.1-170, Article 170
Hauptverfasser: Tauziède-Espariat, Arnault, Uro-Coste, Emmanuelle, Nicaise, Yvan, Sievers, Philipp, von Deimling, Andreas, Sahm, Felix, Aboubakr, Oumaima, Métais, Alice, Chrétien, Fabrice, Varlet, Pascale
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Sprache:eng
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Zusammenfassung:Because a subset of pHGG-MYCN have been found to harbor an amplification of the ID2 gene with (12/36, 33%) or without (1/36, 3%) a concomitant MYCN amplification (MYCN+/ID2+) [2], we have formulated a FISH (Fluorescence in situ hybridization) technique that targets both loci. DNA-methylation analysis is still only limited to a small number of centres worldwide or may not be contributive (8/29 cases from this cohort presented a low calibrated score for a methylation class), so alternative methods for routine practice need to be validated. [...]histopathology (including p53 overexpression correlated to TP53 mutation), and FISH MYCN/ID2 may help diagnose pHGG-MYCN, using a simple algorithm approach (Fig. 2). Acta Neuropathol Commun 8:104. https://doi.org/10.1186/s40478-020-00974-x Tauziède-Espariat A, Debily M-A, Castel D, Grill J, Puget S, Sabel M, Blomgren K, Gareton A, Dangouloff-Ros V, Lechapt E, Boddaert N, Varlet P (2019) An integrative radiological, histopathological and molecular analysis of pediatric pontine histone-wildtype glioma with MYCN amplification (HGG-MYCN).
ISSN:2051-5960
2051-5960
DOI:10.1186/s40478-023-01667-x