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J Neurosurg Case Lessons
null;35:. doi: 10.3171/CASE21645.
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NTRK3 gene fusion in an adult ganglioglioma: illustrative case.
Rubino S
,
Lynes J
,
McBride P
,
Sahebjam S
,
Mokhtari S
,
Farinhas JM
,
Perry A
,
Macaulay R
,
Vogelbaum MA
.
Abstract
BACKGROUND: Gangliogliomas are well-differentiated, slow-growing glioneuronal neoplasms frequently reported to harbor upregulating alterations in the mitogen-activated protein kinase pathway, particularly serine-threonine protein kinase B-RAF alterations. Fusions involving neurotrophin tyrosine receptor kinase (NTRK) genes have rarely been reported in ganglioglioma. Similarly, echinoderm microtubule-associated protein-like (EML) 4 gene fusion has been described in lung cancer, but none has been reported in ganglioglioma.
OBSERVATIONS: This report discusses the care of a 72-year-old man presenting with medication-refractory, left-sided focal seizures who was found to have a nongadolinium-enhancing, T2-hyperintense, right frontoparietal lesion. The patient received resection, and histological analysis found a World Health Organization grade I ganglioglioma, with genetic analysis demonstrating an EML4-NTRK3 gene fusion protein.
LESSONS: To our knowledge, this is the first report of an NTRK3 fusion, EML4-NTRK3, in an adult ganglioglioma, which is otherwise mostly associated with BRAF alterations and activation of the mitogen-activated protein kinase signaling pathway. Further studies are needed to elucidate the function of the resultant fusion protein and determine whether it may serve as a future therapeutic target.
Amatu,
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Amatu,
Tropomyosin receptor kinase (TRK) biology and the role of NTRK gene fusions in cancer.
2019,
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BAILEY,
Concerning gangliogliomas of the brain.
1947,
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Cocco,
NTRK fusion-positive cancers and TRK inhibitor therapy.
2018,
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Deng,
Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features.
2018,
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Eichenmuller,
The human EMAP-like protein-70 (ELP70) is a microtubule destabilizer that localizes to the mitotic apparatus.
2002,
Pubmed
,
Echinobase
Gambella,
NTRK Fusions in Central Nervous System Tumors: A Rare, but Worthy Target.
2020,
Pubmed
Im,
Intracranial ganglioglioma: preoperative characteristics and oncologic outcome after surgery.
2002,
Pubmed
Khotskaya,
Targeting TRK family proteins in cancer.
2017,
Pubmed
Klijn,
A comprehensive transcriptional portrait of human cancer cell lines.
2015,
Pubmed
Kurozumi,
High-grade glioneuronal tumor with an ARHGEF2-NTRK1 fusion gene.
2019,
Pubmed
Louis,
The 2021 WHO Classification of Tumors of the Central Nervous System: a summary.
2021,
Pubmed
Palani,
Methylation and expression patterns of tropomyosin-related kinase genes in different grades of glioma.
2014,
Pubmed
Pekmezci,
The genetic landscape of ganglioglioma.
2018,
Pubmed
Prabhakaran,
Novel TLE4-NTRK2 fusion in a ganglioglioma identified by array-CGH and confirmed by NGS: Potential for a gene targeted therapy.
2018,
Pubmed
Raghav,
Role of HGF/MET axis in resistance of lung cancer to contemporary management.
2012,
Pubmed
Reungwetwattana,
Oncogenic pathways, molecularly targeted therapies, and highlighted clinical trials in non-small-cell lung cancer (NSCLC).
2012,
Pubmed
Roskoski,
Anaplastic lymphoma kinase (ALK): structure, oncogenic activation, and pharmacological inhibition.
2013,
Pubmed
Sabir,
EML4-ALK Variants: Biological and Molecular Properties, and the Implications for Patients.
2017,
Pubmed
,
Echinobase
Soda,
Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer.
2007,
Pubmed
,
Echinobase
Solomon,
Current status of targeted therapy for anaplastic lymphoma kinase-rearranged non-small cell lung cancer.
2014,
Pubmed
Torre,
Molecular and clinicopathologic features of gliomas harboring NTRK fusions.
2020,
Pubmed
Zhao,
NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome.
2021,
Pubmed
