Click
here to close Hello! We notice that
you are using Internet Explorer, which is not supported by Echinobase
and may cause the site to display incorrectly. We suggest using a
current version of Chrome,
FireFox,
or Safari.
J Neurosurg Case Lessons
null;35:. doi: 10.3171/CASE21645.
Show Gene links
Show Anatomy links
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
.
???displayArticle.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,
Tropomyosin receptor kinase (TRK) biology and the role of NTRK gene fusions in cancer.
2019, Pubmed
Amatu,
Tropomyosin receptor kinase (TRK) biology and the role of NTRK gene fusions in cancer.
2019,
Pubmed
BAILEY,
Concerning gangliogliomas of the brain.
1947,
Pubmed
Cocco,
NTRK fusion-positive cancers and TRK inhibitor therapy.
2018,
Pubmed
Deng,
Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features.
2018,
Pubmed
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
