4.3 Review

Neuroepithelial tumor with EWSR1::PATZ1 fusion: A literature review

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Article Oncology

Case report: A unique presentation of a high-grade neuroepithelial tumor with EWSR1::PATZ1 fusion with diagnostic, molecular, and therapeutic insights

Andre Ene et al.

Summary: In this article, we report a rare case of a high-grade neuroepithelial tumor in a young man with an EWSR1::PATZ1 fusion. The tumor appears to have undergone high-grade transformation from a persistent low-grade glioma, which is a unique finding. Additionally, this is the first case to document concurrent RB1 loss, SMAD4 loss, and TP53 inactivation in this tumor type, which is associated with high-grade transformation. The patient is still alive 2.5 years after treatment, providing valuable insights into the clinical behavior of these tumors over a long follow-up period. Furthermore, we discuss the altered molecular pathways resulting from the EWSR1::PATZ1 fusion and potential therapeutic targets.

FRONTIERS IN ONCOLOGY (2023)

Review Clinical Neurology

The oncogenic fusion landscape in pediatric CNS neoplasms

Mieke Roosen et al.

Summary: Pediatric neoplasms in the central nervous system (CNS) are a leading cause of cancer-related deaths in children. Recent molecular analyses have improved diagnosis and risk stratification of CNS tumors. Fusion proteins and oncogenic drivers are important in pediatric tumorigenesis.

ACTA NEUROPATHOLOGICA (2022)

Article Pathology

Molecular Profiling of Clear Cell Myoepithelial Carcinoma of Salivary Glands With EWSR1 Rearrangement Identifies Frequent PLAG1 Gene Fusions But No EWSR1 Fusion Transcripts

Alena Skalova et al.

Summary: Myoepithelial carcinoma of salivary glands, including the clear cell variant, is aggressive with unknown genetic features. EWSR1 rearrangements were found in some cases, but without EWSR1 fusion transcripts.PLAG1 fusions, including LIFR-PLAG1 and CTNNB1-PLAG1, are frequent in EWSR1-FISH positive CCMCs. EWSR1 abnormalities without fusion may have a minor oncologic effect.

AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2021)

Review Clinical Neurology

The spectrum of rare central nervous system (CNS) tumors with EWSR1-non-ETS fusions: experience from three pediatric institutions with review of the literature

Oscar Lopez-Nunez et al.

Summary: Five cases of primary EWSR1-non-ETS fused CNS tumors were identified, showing morphologic and biologic heterogeneity with different fusion partner combinations. Determining specific fusion partners is crucial for improving diagnostic accuracy, treatment, and monitoring in these rare tumors.

BRAIN PATHOLOGY (2021)

Article Pathology

EWSR1-PATZ1-rearranged sarcoma: a report of nine cases of spindle and round cell neoplasms with predilection for thoracoabdominal soft tissues and frequent expression of neural and skeletal muscle markers

Michael Michal et al.

Summary: This study presents the largest clinicopathological analysis of EWSR1-PATZ1-rearranged EPS to date, highlighting the broad morphological spectrum of this entity. Some patients showed indolent clinical courses, suggesting that EPS may have diverse clinical outcomes. Further research is necessary to determine the prognostic impact of morphological and molecular attributes in EPS.

MODERN PATHOLOGY (2021)

Letter Clinical Neurology

Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination

Sabrina Rossi et al.

Summary: This case shares similarities with previously reported ones but also has unique characteristics, indicating the importance of considering this entity in the differential diagnosis of infantile glial/glioneural tumors.

BRAIN PATHOLOGY (2021)

Letter Clinical Neurology

A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management

Karan R. Chadda et al.

Summary: Whole genome sequencing played a key role in diagnosing astroblastoma, confirming the diagnosis and providing insight for further prognosis and treatment for children with brain tumors.

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2021)

Article Clinical Neurology

PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum

Karam T. Alhalabi et al.

Summary: Large-scale molecular profiling studies have revealed greater heterogeneity in CNS tumors than expected, with DNA methylation profiling being a useful tool for robust tumor classification. A subset of CNS tumors carrying PATZ1 fusions have been identified, showing a distinct molecular class with intermediate prognosis.

ACTA NEUROPATHOLOGICA (2021)

Article Pathology

EWSR1-PATZ1 fusion renal cell carcinoma: a recurrent gene fusion characterizing thyroid-like follicular renal cell carcinoma

Khaleel Al-Obaidy et al.

Summary: Thyroid-like follicular renal cell carcinoma is a rare kidney tumor with distinct histological features, positive immunohistochemical markers, and molecular alterations involving EWSR1-PATZ1 fusion gene. No evidence of recurrence or metastasis was found in the cohort of patients during the follow-up period. The identification of EWSR1-PATZ1 fusion provides the first distinct molecular abnormality in thyroid-like follicular renal cell carcinomas.

MODERN PATHOLOGY (2021)

Review Pathology

EWSR1-WT1 gene fusions in neoplasms other than desmoplastic small round cell tumor: a report of three unusual tumors involving the female genital tract and review of the literature

J. Kenneth Schoolmeester et al.

Summary: This study reports three female genital tract tumors with EWSR1-WT1 fusions, but showing morphologic and immunohistochemical features incompatible with DSRCT. The tumors exhibit significant differences in clinical and pathological characteristics, as well as expression patterns compared to classic DSRCT.

MODERN PATHOLOGY (2021)

Article Biochemical Research Methods

Breeze: an integrated quality control and data analysis application for high-throughput drug screening

Swapnil Potdar et al.

BIOINFORMATICS (2020)

Review Medicine, Research & Experimental

Round Cell Sarcoma withEWSR1-PATZ1Gene Fusion in the Neck: Case Report and Review of the Literature

Ki W. Park et al.

LARYNGOSCOPE (2020)

Article Clinical Neurology

EWSR1-PATZ1 gene fusion may define a new glioneuronal tumor entity

Aurore Siegfried et al.

BRAIN PATHOLOGY (2019)

Article Medicine, General & Internal

Clinical application of RNA sequencing in sarcoma diagnosis An institutional experience

Jianming Pei et al.

MEDICINE (2019)

Article Pathology

Clinical, pathological, and genomic features of EWSR1-PATZ1 fusion sarcoma

Julia A. Bridge et al.

MODERN PATHOLOGY (2019)

Article Pathology

Spindle and Round Cell Sarcoma With EWSR1-PATZ1 Gene Fusion A Sarcoma With Polyphenotypic Differentiation

Abhijit Chougule et al.

AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2019)

Review Biochemistry & Molecular Biology

EWSR1, a multifunctional protein, regulates cellular function and aging via genetic and epigenetic pathways

Junghee Lee et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2019)

Article Oncology

Transcriptomic definition of molecular subgroups of small round cell sarcomas

Sarah Watson et al.

JOURNAL OF PATHOLOGY (2018)

Article Oncology

Ewing sarcoma fusion oncogene: At the crossroads of transcription and DNA damage response

Aparna Gorthi et al.

MOLECULAR & CELLULAR ONCOLOGY (2018)

Article Biochemistry & Molecular Biology

PATZ1 Is a DNA Damage-Responsive Transcription Factor That Inhibits p53 Function

Nazli Keskin et al.

MOLECULAR AND CELLULAR BIOLOGY (2015)

Article Pathology

Malignant round cell tumor of bone with EWSR1-NFATC2 gene fusion

Navid Sadri et al.

VIRCHOWS ARCHIV (2014)

Article Biochemistry & Molecular Biology

Zinc ringer protein 278, a potential oncogene in human colorectal cancer

Xiaoqing Tian et al.

ACTA BIOCHIMICA ET BIOPHYSICA SINICA (2008)

Article Biochemistry & Molecular Biology

PATZ attenuates the RNF4-mediated enhancement of androgen receptor-dependent transcription

R Pero et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2002)

Article Biochemistry & Molecular Biology

A novel zinc finger gene is fused to EWS in small round cell tumor

T Mastrangelo et al.

ONCOGENE (2000)