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Abstract Details

A Case of Infant-type Hemispheric Glioma with NTRK1 fusion
P9 - Poster Session 9 (5:30 PM-6:30 PM)

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 NTRK gene in 10% of non-brainstem high grade glioma in very young children suggesting an oncogenic effect of the NTRK 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 NTRK1 fusion.

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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 >99th 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 6x7cm 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 NTRK1 fusion. Due to the dismal prognosis, the family prioritized palliative care.

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 NTRK1, NTRK2, and NTRK3 are involved in infant-type hemispheric gliomas and are typically high grade in histology. A recent study by Torre et al. showed most NTRK-fused gliomas were hemispheric and had a higher prevalence in non-brainstem high grade gliomas in patients younger than 3 years old.

Mekka Rae Garcia, MD (NYU)
Dr. Garcia has nothing to disclose.
Lena Bell, MD (NYU Langone Medical Center) Dr. Bell has nothing to disclose.
Aaron Lane Nelson, MD, FAAN (NYU Langone Health) Dr. Nelson has nothing to disclose.
Claire Miller, MD, PhD (NYU Langone Health) Dr. Miller has nothing to disclose.
Devorah Segal, MD (NYU Langone) Dr. Segal has nothing to disclose.