A Case of Infant-Type Hemispheric Glioma with NTRK1 Fusion

Autor: Mekka R. Garcia, Lena Bell, Claire Miller, Devorah Segal
Rok vydání: 2022
Předmět:
Zdroj: Child Neurology Open. 9:2329048X2211469
ISSN: 2329-048X
DOI: 10.1177/2329048x221146982
Popis: 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.
Databáze: OpenAIRE