Rare variant of large pediatric glioneuronal tumor with novel MYO5A::NTRK3 fusion: illustrative case

David Chenoweth; Hashim Syed; Nahom Teferi; Meron Challa; Jane E Persons; Kathryn L Eschbacher; Maggie Seblani; Brian J Dlouhy

doi:10.3171/CASE23638

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Rare variant of large pediatric glioneuronal tumor with novel MYO5A::NTRK3 fusion: illustrative case

Journal article

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Rare variant of large pediatric glioneuronal tumor with novel MYO5A::NTRK3 fusion: illustrative case

David Chenoweth, Hashim Syed, Nahom Teferi, Meron Challa, Jane E Persons, Kathryn L Eschbacher, Maggie Seblani and Brian J Dlouhy

Journal of neurosurgery. Case lessons, Vol.7(10), pp.1-8

03/04/2024

DOI: 10.3171/CASE23638

PMCID: PMC10916846

PMID: 38437672

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Abstract

Glioneuronal tumors (GNTs) comprise a rare class of central nervous system (CNS) neoplasms with varying degrees of neuronal and glial differentiation that predominately affect children and young adults. Within the current 2021 World Health Organization (WHO) classification of CNS tumors, GNTs encompass 14 distinct tumor types. Recently, the use of whole-genome DNA methylation profiling has allowed more precise classification of this tumor group. A 3-year-old male presented with a 3-month history of increasing head circumference, regression of developmental milestones, and speech delay. Magnetic resonance imaging of the brain was notable for a large left hemispheric multiseptated mass with significant mass effect and midline shift that was treated with near-total resection. Histological and molecular assessment demonstrated a glioneuronal tumor harboring an MYO5A::NTRK3 fusion. By DNA methylation profiling, this tumor matched to a provisional methylation class known as "glioneuronal tumor kinase-fused" (GNT kinase-fused). The patient was later started on targeted therapy with larotrectinib. This is the first report of an MYO5A::NTRK3 fusion in a pediatric GNT. GNT kinase-fused is a provisional methylation class not currently included in the WHO classification of CNS tumors. This case highlights the impact of thorough molecular characterization of CNS tumors, especially with the increasing availability of novel gene targeting therapies.

Pediatrics

kinase fused

MYO5A

NTRK3

glioneuronal tumors

Details

Title: Subtitle: Rare variant of large pediatric glioneuronal tumor with novel MYO5A::NTRK3 fusion: illustrative case
Creators: David Chenoweth - University of Iowa Hospitals and Clinics
Hashim Syed - University of Iowa
Nahom Teferi - University of Iowa
Meron Challa - University of Iowa
Jane E Persons - University of Iowa
Kathryn L Eschbacher - University of Iowa
Maggie Seblani - University of Iowa
Brian J Dlouhy - University of Iowa
Resource Type: Journal article
Publication Details: Journal of neurosurgery. Case lessons, Vol.7(10), pp.1-8
DOI: 10.3171/CASE23638
PMID: 38437672
PMCID: PMC10916846
NLM abbreviation: J Neurosurg Case Lessons
eISSN: 2694-1902
Language: English
Date published: 03/04/2024
Academic Unit: Stead Family Department of Pediatrics; Pathology; Iowa Neuroscience Institute; Neurosurgery; Otolaryngology
Record Identifier: 9984567875302771

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