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Pediatric Brainstem Gangliogliomas Show BRAFV600E Mutation in a High Percentage of Cases.
- Source :
- Brain Pathology; Mar2014, Vol. 24 Issue 2, p173-183, 11p
- Publication Year :
- 2014
-
Abstract
- Brainstem gangliogliomas ( GGs), often cannot be resected, have a much poorer prognosis than those located in more common supratentorial sites and may benefit from novel therapeutic approaches. Therapeutically targetable BRAF c.1799 T> A (p. V600 E) ( BRAF<superscript>V600E</superscript>) mutations are harbored in roughly 50% of collective GGs taken from all anatomical sites. Large numbers of pediatric brainstem GGs, however, have not been specifically assessed and anatomic-and age-restricted assessment of genetic and biological factors are becoming increasingly important. Pediatric brainstem GGs (n = 13), non-brainstem GGs (n = 11) and brainstem pilocytic astrocytomas ( PAs) (n = 8) were screened by standard Sanger DNA sequencing of BRAF exon 15. Five of 13 (38%) pediatric GG harbored a definitive BRAF<superscript>V600E</superscript> mutation, with two others exhibiting an equivocal result by this method. BRAF<superscript>V600E</superscript> was also seen in five of 11 (45%) non-brainstem GGs and one of eight (13%) brainstem PAs. VE1 immunostaining for BRAF<superscript>V600E</superscript> showed concordance with sequencing in nine of nine brainstem GGs including the two cases equivocal by Sanger. The equivocal brainstem GGs were subsequently shown to harbor BRAF<superscript>V600E</superscript> using a novel, more sensitive, RNA-sequencing approach, yielding a final BRAF<superscript>V600E</superscript> mutation frequency of 54% (seven of 13) in brainstem GGs. BRAF<superscript>V600E</superscript>-targeted therapeutics should be a consideration for the high percentage of pediatric brainstem GGs refractory to conventional therapies. [ABSTRACT FROM AUTHOR]
- Subjects :
- INFANT diseases
BRAIN stem
GENETIC mutation
NUCLEOTIDE sequence
PROGNOSIS
Subjects
Details
- Language :
- English
- ISSN :
- 10156305
- Volume :
- 24
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Brain Pathology
- Publication Type :
- Academic Journal
- Accession number :
- 94475715
- Full Text :
- https://doi.org/10.1111/bpa.12103