Longitudinal mutational analysis of a cerebellar pilocytic astrocytoma recurring as a ganglioglioma
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- 作者：Pierre O. Fiset ; Adam M. Fontebasso ; Nicolas De Jay ; Tenzin Gayden ; Hamid Nikbakht ; Jacek Majewski ; Nada Jabado and Steffen Albrecht
- 刊名：Pediatric Blood & Cancer
- 出版年：2017
- 出版时间：February 2017
- 年：2017
- 卷：64
- 期：2
- 页码：275-278
- 全文大小：1169K
- ISSN：1545-5017
文摘
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.