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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.

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Related Experiment Video

Updated: May 28, 2026

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
09:49

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Published on: July 5, 2019

Detection of Gene Fusions in Soft Tissue Sarcoma Using Next-Generation Sequencing.

Piotr Remiszewski1,2, Klaudia Bobak1, Jakub Piątkowski3

  • 1Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, 00-001 Warsaw, Poland.

Genes
|May 27, 2026
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing identified gene fusions in one-third of soft tissue sarcoma (STS) patients, exclusively in high-grade tumors. These genomic alterations did not impact treatment or outcomes in this study.

Keywords:
chemotherapy responsegene fusionsmolecular targetsreal-worldsarcoma geneticstherapeutic targets

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Published on: September 20, 2016

Area of Science:

  • Oncology
  • Genomics
  • Molecular Pathology

Background:

  • Soft tissue sarcomas (STS) present significant molecular heterogeneity.
  • Recurrent gene fusions are crucial for STS diagnosis and targeted therapy, but their clinical impact needs further elucidation.

Purpose of the Study:

  • To investigate the utility of next-generation sequencing (NGS) for detecting gene fusions in STS.
  • To explore the clinical implications of identified gene fusions in patients receiving neoadjuvant chemoradiotherapy.

Main Methods:

  • NGS (FusionPlex Sarcoma v2) and bioinformatic analysis were performed on FFPE core needle biopsy specimens.
  • The study included patients from a phase II clinical trial receiving neoadjuvant chemoradiotherapy (UNRESARC protocol).

Main Results:

  • Gene fusions were detected in 3 of 9 patients (33%), exclusively in high-grade (G3) tumors.
  • Identified fusions included SGSH-PRKCA, LINC01133-OGA, and JAZF1-MYH7B with a concurrent PRKCA rearrangement.
  • Fusion-positive cases exhibited stable radiological disease and moderate pathological response, while fusion-negative cases showed varied outcomes.

Conclusions:

  • Broad genomic profiling can offer valuable molecular insights in challenging STS cases.
  • In this series, detected gene fusions did not alter systemic treatment or demonstrate prognostic/predictive value.