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Longitudinal mutational analysis of a cerebellar pilocytic astrocytoma recurring as a ganglioglioma |
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| Authors: | Pierre O. Fiset Adam M. Fontebasso Nicolas De Jay Tenzin Gayden Hamid Nikbakht Jacek Majewski Nada Jabado Steffen Albrecht |
| Affiliation: | 1. Department of Pathology, McGill University Health Centre, Montreal, Canada;2. Division of Experimental Medicine, McGill University, Montreal, Canada;3. Department of Human Genetics, McGill University, Montreal, Canada;4. Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada |
| 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. |
| Keywords: | BRAF V600E mutation ganglioglioma pilocytic astrocyoma whole‐exome sequencing |