Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

DTW Jones, B Hutter, N Jäger, A Korshunov, M Kool… - Nature …, 2013 - nature.com
DTW Jones, B Hutter, N Jäger, A Korshunov, M Kool, HJ Warnatz, T Zichner, SR Lambert…
Nature genetics, 2013nature.com
Pilocytic astrocytoma, the most common childhood brain tumor, is typically associated with
mitogen-activated protein kinase (MAPK) pathway alterations. Surgically inaccessible
midline tumors are therapeutically challenging, showing sustained tendency for progression
and often becoming a chronic disease with substantial morbidities. Here we describe whole-
genome sequencing of 96 pilocytic astrocytomas, with matched RNA sequencing (n= 73),
conducted by the International Cancer Genome Consortium (ICGC) PedBrain Tumor Project …
Abstract
Pilocytic astrocytoma, the most common childhood brain tumor, is typically associated with mitogen-activated protein kinase (MAPK) pathway alterations. Surgically inaccessible midline tumors are therapeutically challenging, showing sustained tendency for progression and often becoming a chronic disease with substantial morbidities. Here we describe whole-genome sequencing of 96 pilocytic astrocytomas, with matched RNA sequencing (n = 73), conducted by the International Cancer Genome Consortium (ICGC) PedBrain Tumor Project. We identified recurrent activating mutations in FGFR1 and PTPN11 and new NTRK2 fusion genes in non-cerebellar tumors. New BRAF-activating changes were also observed. MAPK pathway alterations affected all tumors analyzed, with no other significant mutations identified, indicating that pilocytic astrocytoma is predominantly a single-pathway disease. Notably, we identified the same FGFR1 mutations in a subset of H3F3A-mutated pediatric glioblastoma with additional alterations in the NF1 gene. Our findings thus identify new potential therapeutic targets in distinct subsets of pilocytic astrocytoma and childhood glioblastoma.
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