Peer-reviewed article
SURG-07. The impact of early targeted therapy on the neurosurgical approach to pediatric low-grade glioma
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Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This report describes two cases of children with low-grade brain tumours (gliomas) treated with vemurafenib, a targeted drug that blocks a specific mutation (BRAF V600E). Both children showed rapid tumour shrinkage and clinical improvement after starting the drug, avoiding or delaying the need for surgery. The authors argue that early genetic testing of tumours is important to identify which children might benefit from targeted therapy rather than surgery alone.
Key points
- A 12-year-old girl showed 45% tumour reduction after one month of vemurafenib and 76% shrinkage after one year, with improved balance and reduced arm weakness
- A 3-year-old boy showed 34% tumour reduction after one week and 65% after six months, with improved vision and muscle tone within three days
- Both children had BRAF V600E mutations identified through biopsy and molecular testing
- Targeted therapy reduced or eliminated the need for surgery, potentially avoiding additional neurological damage
- The authors recommend early molecular testing of all childhood low-grade gliomas to identify BRAF mutations and guide treatment decisions
Limitations
This report is based on only two cases without a comparison group, so it cannot establish how commonly or reliably vemurafenib works in this population or who might benefit most. Long-term follow-up data on outcomes and side effects are not provided.
Abstract
Abstract We report two cases of pediatric low-grade glioma (pLGG) treated with vemurafenib, an oral BRAF-inhibitor: a 12-year-old girl with involvement of basal ganglia, hypothalamus, and diencephalic junction; a 3-year-old boy, with an optic pathway/hypothalamic glioma extending along the left optic tract and basal ganglia. Both received a biopsy and molecular analysis was performed in the girl’s tumor, showing BRAF V600E mutation. Therefore, instead of surgical removal planned by neurosurgeons, first-line treatment with vemurafenib was started: after one month 45% reduction of the mass according to RANO criteria was found, as well as better balance control and strong reduction of the right arm paresis; five months later, a 70% shrinkage was detected, stabilized to 76% after a year. The young boy first started chemotherapy with vincristine and carboplatin, but at the end of the induction phase the tumor had increased and ascites, hydrocephalus, and visual impairment occurred. Molecular testing showing BRAF V600E mutation on the initial tumor biopsy was obtained; therefore, the surgical option was postponed and therapy with vemurafenib started. After only three days, visual acuity and muscle tone improved; brain MRI showed a 34% reduction of the mass after one week, increased up to 65% after six months. Therefore, no ulterior surgery was necessary. In pLGG, the neurosurgical biopsy is essential to let an early and rapid molecular diagnosis of BRAF mutations and guide subsequent targeted therapies. Our cases demonstrate how a prompt radiological response to vemurafenib and the related clinical improvement can influence both therapeutic and surgical decisions, hopefully reducing the occurrence of second neurosurgery with associated risks of neurological sequelae. To our knowledge, this is the first report assessing such a quick shrinkage in pLGG treated with vemurafenib, highlighting the importance of an early investigation of BRAF status in all cases of LGG in children.
Findings the Hub has extracted
Each claim below is labelled by its type of design and links back to this report.
- Intervention
- Early molecular testing (BRAF mutation analysis) followed by vemurafenib (BRAF-inhibitor) targeted therapy instead of or before surgery
- Population
- Two children with low-grade gliomas: a 12-year-old girl and a 3-year-old boy, both with BRAF V600E mutations
Key finding
Girl: 45% tumour reduction after one month, 76% after one year; improved balance and reduced paresis
PubMed Central (PMC) · 1 Jun 2022