Atypical ganglioglioma with BRAF V600E mutation: A case report and review of the literature

Francisco Martínez-Ricarte, Elena Martínez-Saez, Marta Cicuendez, Esteban Cordero, Cristina Auger, Manuel Toledo, Andrea Radoi, Juan Sahuquillo

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© 2016 Revista de Neurología. Introduction. Gangliogliomas are rare tumours that affect young patients, appear predominantly in the temporal lobe and usually begin with epileptic seizures. Histologically they have a grade I of malignancy, with an anaplastic form that is catalogued as grade III in the 2007 WHO classification. Yet, there are tumours that do not meet the criteria of either grade and which offer clear prognostic differences with respect to those of grade I. These tumours would be atypical gangliogliomas (grade II), which are not considered in this classification. From the molecular point of view, the best known alteration in gangliogliomas is the BRAF V600E mutation, which worsens the prognosis of the lesion. The possible use of treatments targeted towards this mutated protein is especially relevant in this disorder. Case report. A 21-year-old male, who had undergone surgery due to a ganglioglioma on two occasions. The neuropathological examination revealed histological features consistent with an intermediate grade of malignancy (grade II), with positive BRAF mutation. Conclusions. The case presented here, together with those previously reported in the literature, reopens the debate on the definition of gangliogliomas in the 2007 WHO classification, and lends support to the fact that the next classification should again include atypical gangliogliomas (grade II), together with possible genetic mutations and molecular disorders.
Idioma originalEnglish
Pàgines (de-a)455-459
RevistaRevista de Neurologia
Estat de la publicacióPublicada - 16 de maig 2016


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