Abstract:
AIM:Pilocytic astrocytomas represent the most common paediatric tumours of the central nervous system. Dissemination through the ventricular system occurs rarely in patients with pilocytic astrocytomas; however, it is more common in infants with diencephalic tumours, and is associated with a poor outcome. Despite histological similarities with classic pilocytic astrocytomas, it is still unclear whether disseminated pilocytic astrocytomas may have specific molecular features. METHODS:Seventeen disseminated pilocytic astrocytomas were investigated using the molecular inversion probe array and screened for the presence of gene fusions (KIAA1549-BRAF) and mutations (BRAF, RAS and FGFR1). RESULTS:Along with evidence of a constitutive MAPK activation in all cases, the molecular inversion probe array, fluorescence in situ hybridization analysis and mutational study revealed KIAA1549-BRAF fusions in 66% and BRAF(V600E) mutations in 5% of cases. No KRAS, HRAS, NRAS or FGFR1 mutations were found. CONCLUSIONS:disseminated pilocytic astrocytomas showed genetic features similar to classic pilocytic astrocytoma, including a similar incidence of KIAA1549-BRAF fusions, BRAF mutations and a stable genetic profile. Given common activation of the MAPK pathway, the use of specific inhibitors can be hypothesized for the treatment of disseminated pilocytic astrocytomas, along with standard chemo- and/or radiotherapy.
journal_name
Neuropathol Appl Neurobioljournal_title
Neuropathology and applied neurobiologyauthors
Gessi M,Engels AC,Lambert S,Rothämel T,von Hornstein S,Collins VP,Denkhaus D,Gnekow A,Pietsch Tdoi
10.1111/nan.12256subject
Has Abstractpub_date
2016-04-01 00:00:00pages
273-8issue
3eissn
0305-1846issn
1365-2990journal_volume
42pub_type
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journal_title:Neuropathology and applied neurobiology
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journal_title:Neuropathology and applied neurobiology
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doi:10.1111/j.1365-2990.1981.tb00098.x
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journal_title:Neuropathology and applied neurobiology
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更新日期:1991-10-01 00:00:00
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更新日期:2013-02-01 00:00:00
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更新日期:2017-02-01 00:00:00
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pub_type: 杂志文章
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更新日期:1992-02-01 00:00:00
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journal_title:Neuropathology and applied neurobiology
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