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- Title
Deciphering the genetic and epigenetic landscape of pediatric bithalamic tumors.
- Authors
Tauziède‐Espariat, Arnault; Debily, Marie‐Anne; Castel, David; Grill, Jacques; Puget, Stéphanie; Roux, Alexandre; Saffroy, Raphaël; Gauchotte, Guillaume; Wahler, Ellen; Hasty, Lauren; Chrétien, Fabrice; Lechapt, Emmanuèle; Dangouloff‐Ros, Volodia; Boddaert, Nathalie; Sievers, Philipp; Varlet, Pascale
- Abstract
Two cases presented H3K27M mutation, but no DNA-methylation was available, and moreover, because one of them presented an I EGFR i amplification, we suggest the diagnosis of DMG, H3K27-altered (with H3K27M mutation). Indeed, I EGFR i amplification has not been described in DMG H3K27-mutant [8] and only six cases with concomitant H3K27M and I EGFR i alterations (including amplification) have been classified as DMG I EGFR i -altered [3]. Consequently, for our two cases presenting H3K27M mutation without verification by DNA methylation profiling and without complete I EGFR i characterization (one case presented an I EGFR i amplification), we concluded a diagnosis of DMG, H3K27-altered.
- Subjects
THALAMIC nuclei; TUMORS; EPIGENETICS
- Publication
Brain Pathology, 2022, Vol 32, Issue 3, p1
- ISSN
1015-6305
- Publication type
Article
- DOI
10.1111/bpa.13039