Identification of a novel fusion transcript EWSR1-VEZF1 by anchored multiplex PCR in malignant peripheral nerve sheath tumor

Stefania Benini; Gabriella Gamberi; Stefania Cocchi; Alberto Righi; Tommaso Frisoni; Alessandra Longhi; Marco Gambarotti

doi:10.1016/j.prp.2019.152760

Identification of a novel fusion transcript EWSR1-VEZF1 by anchored multiplex PCR in malignant peripheral nerve sheath tumor

Pathol Res Pract. 2020 Jan;216(1):152760. doi: 10.1016/j.prp.2019.152760. Epub 2019 Nov 22.

Authors

Stefania Benini¹, Gabriella Gamberi², Stefania Cocchi³, Alberto Righi³, Tommaso Frisoni⁴, Alessandra Longhi⁵, Marco Gambarotti³

Affiliations

¹ Department of Pathology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: [email protected].
² Department of Pathology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy; Department of Biomedical and Neuromotor Science, University of Bologna, Italy.
³ Department of Pathology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
⁴ Department of Biomedical and Neuromotor Science, University of Bologna, Italy; Department of Orthopaedic Surgery, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
⁵ Department of Chemotherapy, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

PMID: 31812440
DOI: 10.1016/j.prp.2019.152760

Abstract

The aim of the study is to describe a novel genetic finding examining the molecular and pathological features of a case of malignant peripheral nerve sheath tumor occurring in the thigh of a 17-year-old male. Fusion gene detection using a next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Sarcoma Panel) was used to identify the novel fusion of EWSR1-VEZF1 from the frozen tumor sample. EWSR1-VEZF1 fusion is a novel molecular gene rearrangement involving exon 8 of the EWSR1 gene and exon 2 of the VEZF1 gene. Data were validated with gene sequencing and fluorescent in situ hybridization (FISH) analysis. This case report describes a novel rearrangement involving EWSR1 on chromosome 22 and VEZF1 on chromosome 17. The result obtained demonstrates the value of the next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Sarcoma Panel) both in diagnosis and patient care and might become a helpful diagnostic tool for this tumor type.

Keywords: EWSR1; NGS; Novel fusion transcript; Sarcoma panel; VEZF1.

Publication types

Case Reports

MeSH terms

Adolescent
Calmodulin-Binding Proteins / genetics
DNA-Binding Proteins / genetics*
High-Throughput Nucleotide Sequencing / methods
Humans
Male
Multiplex Polymerase Chain Reaction / methods
Nerve Sheath Neoplasms / diagnosis
Nerve Sheath Neoplasms / genetics*
Neurofibrosarcoma / diagnosis
Neurofibrosarcoma / genetics*
Oncogene Proteins, Fusion / genetics
RNA-Binding Protein EWS / genetics*
Soft Tissue Neoplasms / pathology*
Transcription Factors / genetics*

Substances

Calmodulin-Binding Proteins
DNA-Binding Proteins
EWSR1 protein, human
Oncogene Proteins, Fusion
RNA-Binding Protein EWS
Transcription Factors
VEZF1 protein, human