Molecular characterization of disseminated pilocytic astrocytomas.
Neuropathol Appl Neurobiol
; 42(3): 273-8, 2016 Apr.
Article
en En
| MEDLINE
| ID: mdl-26084390
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Astrocitoma
/
Neoplasias Encefálicas
Límite:
Adolescent
/
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Neuropathol Appl Neurobiol
Año:
2016
Tipo del documento:
Article
País de afiliación:
Alemania