title: Dysembryoplastic neuroepithelial tumors share with pleomorphic xanthoastrocytomas and gangliogliomas BRAF(V600E) mutation and expression.
abstract: Pediatric cortical glioneuronal benign tumors mainly include gangliogliomas (GG) [differential diagnoses pilocytic astrocytomas (PA) and pleomorphic xanthoastrocytomas (PXA)] and dysembryoplastic neuroepithelial tumor (DNT). DNT include the specific form and the controversial non-specific form that lack the specific glioneuronal element. Our aims were to search for BRAF(V600E) mutation and CD34 expression in DNT, PXA, GG and PA to correlate BRAF(V600E) mutation with BRAF(V600E) expression and to evaluate their diagnostic and prognostic values. Ninety-six children were included. BRAF(V600E) mutation was studied by sequencing and immunohistochemistry; CD34 expression was analyzed by immunohistochemistry. BRAF(V600E) mutation was detected in PXA (60%), GG (38.7%), DNT (30%, including 3/11 specific and 3/9 non-specific forms) and PA (12.5%). BRAF(V600E) expression was recorded in PXA (60%), GG (45.2%) and DNT (30%). CD34 expression was recorded in PXA (60%), GG (58.1%), DNT (25%) and PA (12.5%). Neither CD34 expression nor BRAF(V600E) status was predictive of prognosis, except for PA tumors where CD34 expression was associated with a shorter overall survival. In conclusion, DNT shared with PXA and GG, BRAF(V600E) mutation and/or CD34 expression, which represent molecular markers for these tumors, and we recommend searching for CD34 expression and BRAF(V600E) mutation in all DNT, especially the non-specific forms.
authors: INSERM, UMR 911, Marseille, France.
authors: Céline
authors: C
authors: Chappé
authors: Laetitia
authors: L
authors: Padovani
authors: Didier
authors: D
authors: Scavarda
authors: Fabien
authors: F
authors: Forest
authors: Isabelle
authors: I
authors: Nanni-Metellus
authors: Anderson
authors: A
authors: Loundou
authors: Sandy
authors: S
authors: Mercurio
authors: Frédéric
authors: F
authors: Fina
authors: Gabriel
authors: G
authors: Lena
authors: Carole
authors: C
authors: Colin
authors: Dominique
authors: D
authors: Figarella-Branger
mesh_terms: D000293:Adolescent; D018952:Antigens, CD34 / Q000378:metabolism; D001254:Astrocytoma / Q000150:complications / Q000235:genetics*; D001932:Brain Neoplasms; D002648:Child; D002675:Child, Preschool; D005260:Female; D018303:Ganglioglioma / Q000150:complications / Q000235:genetics*; D018698:Glutamic Acid / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D018302:Neoplasms, Neuroepithelial / Q000150:complications / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D014633:Valine / Q000235:genetics*; D055815:Young Adult
chemical_list: D018952:Antigens, CD34; D018698:Glutamic Acid; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D014633:Valine
keywords: BRAFV600E expression; BRAFV600E mutation; CD34; dysembryoplastic neuroepithelial tumors (DNT); gangliogliomas (GG); pleomorphic xanthoastrocytomas (PXA)