A Case of Infant-type Hemispheric Glioma with NTRK1 fusion (P9-13.003)

Abstract

<h3>Objective:</h3> Not applicable <h3>Background:</h3> The incidence of childhood central nervous system tumors in infants is about 6 per 100,000 children with glioma having the highest incidence at 1.38 per 100,000. A study by Wu et al. showed recurrent fusion of the <i>NTRK</i> gene in 10% of non-brainstem high grade glioma in very young children suggesting an oncogenic effect of the <i>NTRK</i> fusion genes. Here we present a rare 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 <i>NTRK1</i> fusion. <h3>Design/Methods:</h3> Not applicable <h3>Results:</h3> A full-term infant with normal prenatal course, including a 20-week anatomy scan, was born with widely splayed sutures, bulging anterior fontanelle and head circumference &gt;99^th percentile (40 cm). Head ultrasound showed severe hydrocephalus and a large intracranial mixed echogenicity lesion in the left cerebral hemisphere with hemorrhage. He had sustained leftward gaze, and video EEG revealed seizures. MRI demonstrated a large 6×7cm lesion, hydrocephalus with subfalcine herniation and mass effect on the brainstem (figure, A–B). He underwent biopsy and ventriculoperitoneal shunt placement. MRI 2 weeks later showed tumor enlargement, obstructive hydrocephalus and severe brainstem compression (figure, C–D). Pathology was consistent with infant-type hemispheric glioma with <i>NTRK1</i> fusion. Due to the dismal prognosis, the family prioritized palliative care. <h3>Conclusions:</h3> Infant-type hemispheric glioma, previously termed glioblastoma (GBM), is a rare, rapidly-growing congenital tumor, and prenatal imaging is often normal. Mixed-age hemorrhages and diffusion restriction is suggestive of the diagnosis. The neurotrophic tyrosine receptor kinase (NTRK) genes <i>NTRK1, NTRK2</i>, and <i>NTRK3</i> are involved in infant-type hemispheric gliomas and are typically high grade in histology. A recent study by Torre et al. showed most <i>NTRK-</i>fused gliomas were hemispheric and had a higher prevalence in non-brainstem high grade gliomas in patients younger than 3 years old. <b>Disclosure:</b> Dr. Garcia has nothing to disclose. Dr. Bell has nothing to disclose. Dr. Nelson has nothing to disclose. Dr. Miller has nothing to disclose. Dr. Segal has nothing to disclose.