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Longitudinal mutational analysis of a cerebellar pilocytic astrocytoma recurring as a ganglioglioma
Author(s) -
Fiset Pierre O.,
Fontebasso Adam M.,
Jay Nicolas,
Gayden Tenzin,
Nikbakht Hamid,
Majewski Jacek,
Jabado Nada,
Albrecht Steffen
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26215
Subject(s) - pilocytic astrocytoma , ganglioglioma , mutation , medicine , astrocytoma , pathology , gene , histology , cerebellum , cancer research , pleomorphic xanthoastrocytoma , genetics , glioma , biology , psychiatry , epilepsy
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.