Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Feb 21;82(3):272-275.
doi: 10.1093/jnen/nlad002.

First-time identification of a KIF5B-NTRK2 fusion in extraventricular neurocytoma

Maria A Gubbiotti  1 , Mariarita Santi  2 , Philip B Storm  3 , Marilyn Li  4 , Feng Xu  4 , Zied Abdullaev  5 , Kenneth Aldape  5 , Angela N Viaene  2
Affiliations

First-time identification of a KIF5B-NTRK2 fusion in extraventricular neurocytoma

Maria A Gubbiotti et al. J Neuropathol Exp Neurol. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

The authors have no duality or conflicts of interest to declare.

Figures

Figure 1
Figure 1
(A) MRI showing 1.1-cm T2/FLAIR hyperintense right parietal-occipital lesion (yellow arrow) prior to resection. (B–D) Hematoxylin and eosin-stained sections illustrating the morphology of the tumor (40–200× original magnification). (E–G) Immunohistochemical staining pattern of the lesion showing patchy staining for GFAP (E) and OLIG2 (F), and strong staining for synaptophysin (G). (H) Ki-67 staining showing a proliferative index of 2–3%.
Figure 2
Figure 2
Sequencing data of the KIF5B::NTRK2 fusion. (A) Representative NGS sequence reads for the main fusion transcript KIF5B(exon 24)::NTRK2(exon 16) visualized using the JBrowse genome browser. (B) Chromatogram of Sanger confirmation displaying the main fusion transcript KIF5B(exon 24)::NTRK2(exon 16, higher peaks) and the minor fusion transcript KIF5B(exon 24)::NTRK2(exon 15, lower peaks) using Mutation Surveyor (SoftGenetics, LLC). KIF5B(exon 24)::NTRK2(exon 16): 200 unique starting sites, 1048 supporting reads that account for 58.13% of the total reads. KIF5B(exon 24)::NTRK2(exon 15): 146 unique starting sites, 471 supporting reads that account for 63.31% of the total reads. (C) Methylation profiling classifier results using version 12.5 of central nervous system classifier developed by DKFZ, Heidelberg and Uniform Manifold Approximation and Projection (UMAP) graph depicting strong consensus match to the extraventricular neurocytoma methylation class.
See this image and copyright information in PMC

References

    1. Central Nervous System Tumours. WHO Classification of Tumours, 5th Edition. International Agency for Research on Cancer; 2021:153–5
    1. Sievers P, Stichel D, Schrimpf D, et al.FGFR1: TACC1 fusion is a frequent event in molecularly defined extraventricular neurocytoma. Acta Neuropathol 2018;136:293–302 - PubMed
    1. Kalawi AZ, Malicki DM, Abdullaev Z, et al.The role of methylation profiling in histologically diagnosed neurocytoma: A case series. J Neurooncol 2022;159:725–33 - PMC - PubMed
    1. Torre M, Vasudevaraja V, Serrano J, et al.Molecular and clinicopathologic features of gliomas harboring NTRK fusions. Acta Neuropathol Commun 2020;8:107. - PMC - PubMed
    1. Surrey LF, MacFarland SP, Chang F, et al.Clinical utility of custom-designed NGS panel testing in pediatric tumors. Genome Med 2019;11:32. - PMC - PubMed

Substances

LinkOut - more resources