Case Report: A Unique Presentation of a High-grade Neuroepithelial Tumor with EWSR1::PATZ1 Fusion with Diagnostic, Molecular, and Therapeutic Insights

Overview

Journal Front Oncol

Specialty Oncology

Date 2023 Feb 23

PMID 36816978

Authors

Andre Ene

Jing Di

Janna H Neltner

Thomas Pittman

Susanne M Arnold

Jill M Kolesar

John L Villano

Sara E Bachert

Derek B Allison

Affiliations

Soon will be listed here.

Abstract

Background: EWSR1::PATZ1 fusion tumors are exceedingly rare in the central nervous system with only 14 prior cases documented. PATZ1 fusion neuroepithelial tumors are beginning to be recognized as a distinct molecular class of neoplasms that most often occur in children and young adults. These tumors are polyphenotypic, show diverse morphologic features, may be low- or high-grade, and tend to have an intermediate prognosis.

Case Presentation: Herein, we present an unusual case of a high-grade neuroepithelial tumor in a young man with an EWSR1::PATZ1 fusion. This case is unique because the tumor appears to have undergone high-grade transformation from a persistent low-grade glioma, which has yet to be reported. Furthermore, this case is the first to document concurrent RB1 loss, SMAD4 loss, and TP53 inactivation in this tumor type, which correlates with high-grade transformation. Fortunately, this patient is alive 2.5 years after treatment and 18.5 years after initial presentation, which provides a unique window into how these tumors clinically behave over a long follow-up period. Finally, we discuss the altered molecular pathways that are a result of the EWSR1::PATZ1 fusion and discuss potential therapeutic targets.

Conclusion: Awareness of the emerging entity of PATZ1 fusion neuroepithelial tumors is important not only for accurate diagnostic and prognostic purposes but also for predicting response to therapy.

Citing Articles

The Imaging Appearance of Gene Fusion Central Nervous System Tumors.

Vanmarcke C, Marcelis L, Vanden Bempt I, Sciot R, Devos J J Belg Soc Radiol. 2024; 108(1):107.

PMID: 39583630 PMC: 11583614. DOI: 10.5334/jbsr.3431.

Rare posterior fossa EWSR1-PATZ1 gene fusion glioneuronal tumour-mimicking ependymoma in an adolescent successfully treated with surgery alone.

Kumar N, Malicki D, Levy M, Crawford J BMJ Case Rep. 2023; 16(10).

PMID: 37793844 PMC: 10551878. DOI: 10.1136/bcr-2023-256055.

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