A Case of Infant-Type Hemispheric Glioma with NTRK1 Fusion
Mekka R Garcia1, Lena Bell1, Claire Miller1
1Department of Neurology, New York University, New York, NY, USA.
Insights
A rare infant brain tumor case highlights neurotrophic tyrosine receptor kinase (NTRK) gene fusions in pediatric glioma. This severe case in a neonate with NTRK1 fusion complicated by seizures underscores treatment challenges.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Genetics
Background:
- Childhood central nervous system tumors affect approximately 6 in 100,000 infants.
- Recent research indicates that neurotrophic tyrosine receptor kinase (NTRK) gene fusions are present in 10% of non-brainstem high-grade gliomas in young children.
- These NTRK fusions are suggested to have an oncogenic effect.
Observation:
- This report details an extremely rare and severe case of a full-term neonate diagnosed with infant-type hemispheric glioma.
- The infant presented at birth with significant symptoms including widely splayed sutures and a bulging fontanelle.
- The tumor was found to harbor an NTRK1 gene fusion.
Findings:
- The infant's condition was complicated by seizures that were resistant to medical management.
- Due to the large size of the tumor mass, the patient was not considered a suitable candidate for surgery.
- The family ultimately opted for comfort care for the infant.
Implications:
- This case underscores the aggressive nature of infant-type hemispheric gliomas with NTRK fusions.
- It highlights the diagnostic and therapeutic challenges associated with rare pediatric brain tumors.
- Further research into NTRK fusion-driven pediatric gliomas is warranted to improve patient outcomes.
Abstract:
The incidence of childhood central nervous system tumors in infants is about 6 per 100 000 children. Recent studies have showed recurrent fusion of the neurotrophic tyrosine receptor kinase (NTRK) gene in 10% of non-brainstem high grade glioma in very young children suggesting an oncogenic effect of the NTRK fusion genes. In this report, we present a rare, severe case of a full-term neonate who was noted to have widely splayed sutures and a bulging fontanelle at birth who was found to have infant-type hemispheric glioma with NTRK1 fusion with course complicated by seizures refractory to medical treatment. Patient was deemed a poor surgical candidate due to the size of the mass and thus parents opted for comfort care.
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