Novel TLE4-NTRK2 fusion in a ganglioglioma identified by array-CGH and confirmed by NGS: Potential for a gene targeted therapy

Nitya Prabhakaran; Miguel A Guzman; Pournima Navalkele; Edna Chow-Maneval; Jacqueline R Batanian

doi:10.1111/neup.12458

Novel TLE4-NTRK2 fusion in a ganglioglioma identified by array-CGH and confirmed by NGS: Potential for a gene targeted therapy

Neuropathology. 2018 Mar 4. doi: 10.1111/neup.12458. Online ahead of print.

Authors

Nitya Prabhakaran¹, Miguel A Guzman², Pournima Navalkele³, Edna Chow-Maneval⁴, Jacqueline R Batanian⁵

Affiliations

¹ Department of Pathology, University of Missouri School of Medicine, Columbia, Missouri, USA.
² Department of Pathology, Saint Louis, Missouri, USA.
³ Department of Pediatrics, SSM Cardinal Glennon Medical Center, Saint Louis University Medical Center, Saint Louis, Missouri, USA.
⁴ Ignyta, San Diego, California, USA.
⁵ Molecular Cytogenetics, SSM Cardinal Glennon Medical Center, Saint Louis University Medical Center, Saint Louis, Missouri, USA.

PMID: 29502353
DOI: 10.1111/neup.12458

Abstract

Gangliogliomas are rare neoplasms of the central nervous system that mostly originate in the temporal lobe and are associated with seizures. Literature mentions that BRAF mutations are most commonly associated with gangliogliomas. We discuss a unique case of ganglioglioma originating in the posterior fossa that showed multiple losses and a unique interstitial deletion at 9q21 by an array-comparative genome hybridization (array-CGH). The deletion led to a novel molecular fusion (TLE4-NTRK2) which was confirmed by next generation sequencing and provides a potential for a gene-targeted therapy.

Keywords: NTRK fusions; deletion; ganglioglioma; microarray; targeted therapy.

Publication types

Case Reports