BCR-NTRK2 fusion in a low-grade glioma with distinctive morphology and unexpected aggressive behavior

Karra A Jones; Aaron D Bossler; Andrew M Bellizzi; Anthony N Snow

doi:10.1101/mcs.a003855

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BCR-NTRK2 fusion in a low-grade glioma with distinctive morphology and unexpected aggressive behavior

Journal article

Open access

Peer reviewed

BCR-NTRK2 fusion in a low-grade glioma with distinctive morphology and unexpected aggressive behavior

Karra A Jones, Aaron D Bossler, Andrew M Bellizzi and Anthony N Snow

Cold Spring Harbor molecular case studies, Vol.5(2), p.a003855

04/2019

DOI: 10.1101/mcs.a003855

PMCID: PMC6549568

PMID: 30936198

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Abstract

A 52-yr-old man was found to have a 6.6-cm left frontotemporal mass. Biopsy revealed a low-grade astrocytic neoplasm with significant infiltration and an unusual morphologic appearance. Only rare mitotic figures were seen and the Ki-67 proliferative index was very low. Unexpectedly, the low-grade astrocytoma showed rapid progression within a short time, but subsequent resection showed similar histologic findings to the original biopsy with only slightly more mitoses and a marginally increased Ki-67 proliferative index. Molecular testing performed on the tumor showed no alterations in the , , , or genes by sequencing, intact 1p/19q by FISH, and a novel fusion transcript by reverse transcription and anchored multiplex PCR. The patient underwent standard-of-care therapy, both first and second line, for a high-grade glioma because of the aggressive behavior, but the glioma continued to progress despite treatment, and the patient died within 13.5 mo of the original diagnosis. At the time of diagnosis, the fusion transcript had not been described in solid tumors; however, a recent publication described this fusion transcript in two glioblastomas. Although no approved therapy was available for this patient, FDA approval has now been given for solid tumors with any gene family fusions. This unexpected molecular finding in a deceptively low-grade-appearing glioma supports the use of expanded molecular testing in gliomas and solid tumors, particularly in instances where targeted therapies are available.

Humans

Middle Aged

Brain Neoplasms - pathology

Brain Neoplasms - genetics

Male

Receptor, trkB - genetics

Disease Progression

Membrane Glycoproteins - genetics

Glioma - genetics

Neoplasm Grading

Oncogene Proteins, Fusion - genetics

Proto-Oncogene Proteins c-bcr - genetics

Glioma - pathology

Fatal Outcome

Details

Title: Subtitle: BCR-NTRK2 fusion in a low-grade glioma with distinctive morphology and unexpected aggressive behavior
Creators: Karra A Jones - Department of Pathology, University of Iowa, Iowa City, Iowa 52242, USA
Aaron D Bossler - Department of Pathology, University of Iowa, Iowa City, Iowa 52242, USA
Andrew M Bellizzi - Department of Pathology, University of Iowa, Iowa City, Iowa 52242, USA
Anthony N Snow - Department of Pathology, University of Iowa, Iowa City, Iowa 52242, USA
Resource Type: Journal article
Publication Details: Cold Spring Harbor molecular case studies, Vol.5(2), p.a003855
DOI: 10.1101/mcs.a003855
PMID: 30936198
PMCID: PMC6549568
NLM abbreviation: Cold Spring Harb Mol Case Stud
ISSN: 2373-2865
eISSN: 2373-2873
Publisher: United States
Grant note: P30 CA086862 / NCI NIH HHS
Language: English
Date published: 04/2019
Academic Unit: Pathology
Record Identifier: 9984047610602771

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