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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1-7
Number of pages7
JournalPathology Research and Practice
Volume216
DOIs
Publication statusE-pub ahead of print - Nov 22 2019

Keywords

  • EWSR1
  • NGS
  • Novel fusion transcript
  • Sarcoma panel
  • VEZF1

Cite this

@article{2fde5e0d1d1e4e18947574254d4aa285,
title = "Identification of a novel fusion transcript EWSR1-VEZF1 by anchored multiplex PCR in malignant peripheral nerve sheath tumor",
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",
author = "Stefania Benini and Gabriella Gamberi and Stefania Cocchi and Alberto Righi and Tommaso Frisoni and Alessandra Longhi and Marco Gambarotti",
note = "Copyright {\circledC} 2019 Elsevier GmbH. All rights reserved.",
year = "2019",
month = "11",
day = "22",
doi = "10.1016/j.prp.2019.152760",
language = "English",
volume = "216",
pages = "1--7",
journal = "Pathology Research and Practice",
issn = "0344-0338",
publisher = "Elsevier GmbH",

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TY - JOUR

T1 - Identification of a novel fusion transcript EWSR1-VEZF1 by anchored multiplex PCR in malignant peripheral nerve sheath tumor

AU - Benini, Stefania

AU - Gamberi, Gabriella

AU - Cocchi, Stefania

AU - Righi, Alberto

AU - Frisoni, Tommaso

AU - Longhi, Alessandra

AU - Gambarotti, Marco

N1 - Copyright © 2019 Elsevier GmbH. All rights reserved.

PY - 2019/11/22

Y1 - 2019/11/22

N2 - 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.

AB - 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.

KW - EWSR1

KW - NGS

KW - Novel fusion transcript

KW - Sarcoma panel

KW - VEZF1

U2 - 10.1016/j.prp.2019.152760

DO - 10.1016/j.prp.2019.152760

M3 - Article

C2 - 31812440

VL - 216

SP - 1

EP - 7

JO - Pathology Research and Practice

JF - Pathology Research and Practice

SN - 0344-0338

ER -