title: Longitudinal mutational analysis of a cerebellar pilocytic astrocytoma recurring as a ganglioglioma.
abstract: A cerebellar pilocytic astrocytoma (PA) in a child recurred first with a PA histology and then with features of a ganglioglioma (GG). Molecular genetic analyses of the tumors confirmed a BRAF V600E mutation in all. They also all harbored a T202M mutation in ERK1, a kinase downstream of BRAF that is implicated in glial versus neuronal differentiation. The GG sample contained several variants that were not present in the PA samples; in particular, it had a truncating mutation in MAP2. These findings not only underscore the role of BRAF as oncogenic driver but also suggest that other genes may influence tumor morphology.
authors.affiliation: Department of Pathology, McGill University Health Centre, Montreal, Canada.
authors.forename: Pierre O
authors.initials: PO
authors.lastname: Fiset
authors.affiliation: Division of Experimental Medicine, McGill University, Montreal, Canada.
authors.forename: Adam M
authors.initials: AM
authors.lastname: Fontebasso
authors.affiliation: Division of Experimental Medicine, McGill University, Montreal, Canada.
authors.forename: Nicolas
authors.initials: N
authors.lastname: De Jay
authors.affiliation: Division of Experimental Medicine, McGill University, Montreal, Canada.
authors.forename: Tenzin
authors.initials: T
authors.lastname: Gayden
authors.affiliation: Department of Human Genetics, McGill University, Montreal, Canada.
authors.forename: Hamid
authors.initials: H
authors.lastname: Nikbakht
authors.affiliation: Department of Human Genetics, McGill University, Montreal, Canada.
authors.forename: Jacek
authors.initials: J
authors.lastname: Majewski
authors.affiliation: Department of Human Genetics, McGill University, Montreal, Canada.|Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada.
authors.forename: Nada
authors.initials: N
authors.lastname: Jabado
authors.affiliation: Department of Pathology, McGill University Health Centre, Montreal, Canada.
authors.forename: Steffen
authors.initials: S
authors.lastname: Albrecht
mesh_terms: D001254:Astrocytoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D014408:Biomarkers, Tumor / Q000235:genetics*; D001932:Brain Neoplasms / Q000209:etiology* / Q000473:pathology; D002528:Cerebellar Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D018303:Ganglioglioma / Q000209:etiology* / Q000473:pathology; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009364:Neoplasm Recurrence, Local; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF V600E mutation; ganglioglioma; pilocytic astrocyoma; whole-exome sequencing