Open AccessDysembryoplastic Neuroepithelial Tumors Share with Pleomorphic Xanthoastrocytomas and Gangliogliomas BRAF V600E Mutation and Expression
Author(s) -
Chappé Céline,
Padovani Laetitia,
Scavarda Didier,
Forest Fabien,
NanniMetellus Isabelle,
Loundou Anderson,
Mercurio Sandy,
Fina Frédéric,
Lena Gabriel,
Colin Carole,
FigarellaBranger Dominique
Publication year - 2013
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/bpa.12048
Subject(s) - pleomorphic xanthoastrocytoma , v600e , immunohistochemistry , ganglioglioma , cd34 , mutation , pathology , pilocytic astrocytoma , cancer research , biology , medicine , astrocytoma , glioma , gene , stem cell , genetics , epilepsy , neuroscience
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 CD 34 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; CD 34 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 CD 34 expression nor BRAF V600E status was predictive of prognosis, except for PA tumors where CD 34 expression was associated with a shorter overall survival. In conclusion, DNT shared with PXA and GG , BRAF V600E mutation and/or CD 34 expression, which represent molecular markers for these tumors, and we recommend searching for CD 34 expression and BRAF V600E mutation in all DNT , especially the non‐specific forms.