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Case Reports
. 2014 Dec 19:12:356.
doi: 10.1186/s12967-014-0356-1.

Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent

Francesca del Bufalo  1 , Andrea Carai  2 , Lorenzo Figà-Talamanca  3 , Benedetta Pettorini  4 , Conor Mallucci  5 , Felice Giangaspero  6   7 , Manila Antonelli  8 , Manuela Badiali  9 , Loredana Moi  10 , Giuseppe Bianco  11 , Antonella Cacchione  12 , Franco Locatelli  13   14 , Elisabetta Ferretti  15 , Angela Mastronuzzi  16
Affiliations
Case Reports

Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent

Francesca del Bufalo et al. J Transl Med. .

Abstract

Background: Ganglioglioma (GG) and pilocytic astrocytoma (PA) represent the most frequent low-grade gliomas (LGG) occurring in paediatric age. LGGs not amenable of complete resection (CR) represent a challenging subgroup where traditional treatments often fail. Activation of the MAP Kinase (MAPK) pathway caused by the BRAFV600E mutation or the KIAA1549-BRAF fusion has been reported in pediatric GG and PA, respectively.

Case presentation: We report on a case of BRAFV600E mutated cervicomedullary GG treated with standard chemotherapy and surgery. After multiple relapse, BRAF status was analyzed by immunohistochemistry and sequencing showing a BRAFV600E mutation. Treatment with Vemurafenib as single agent was started. For the first time, a radiological and clinical response was obtained after 3 months of treatment and sustained after 6 months.

Conclusion: Our experience underline the importance of understanding the driver molecular alterations of LGG and suggests a role for Vemurafenib in the treatment of pediatric GG not amenable of complete surgical resection.

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Figures

Figure 1
Figure 1
Serial MRI features of the lesion. Sagittal T2 weighted images show, at onset, a bulky mass extending from medulla into cervical spinal cord, dislocating the pons, the floor of the IV ventricle, the cerebellar vermis and tonsils (A); increased size of both cystic and solid component of the lesion after surgical decompression and chemotherapy (B); a new disease progression three months after second surgery (C); further increase of cystic components (D); a relevant reduction in size of both the solid and the cystic components of the lesion six months after the start of treatment (E).
Figure 2
Figure 2
Tumor histology at second biopsy. (A) At the second biopsy, the neoplasm showed the presence of clusters of mature ganglion cells (arrow) in the mist of bland astrocytic cells. (B) The ganglion cells showed strong immunoreactivity for synaptophysin (C). Electropherogram illustrate BRAF V600E (GTG/GAG) mutation detection (arrow) in tumor DNA derived from formalin-fixed paraffin-embedded specimens.
See this image and copyright information in PMC

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