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Related Experiment Video

Updated: Nov 16, 2025

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Clinical benefit for clinical sequencing using cancer panel testing.

Sadaaki Nishimura1,2,3,4, Atsushi Sugimoto1,2,3, Shuhei Kushiyama1,2,3

  • 1Department of Gastroenterological Surgery, Osaka City University Graduate School of Medicine, Osaka, Japan.

Plos One
|February 26, 2021
PubMed
Summary

Clinical sequencing identified pathogenic alterations in 78% of refractory solid tumors. While many patients were candidates for targeted therapy, accessing it proved challenging, highlighting the need for better timing and access strategies.

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Area of Science:

  • Oncology
  • Genomics
  • Personalized Medicine

Background:

  • Clinical sequencing using gene panels is increasingly used for refractory solid tumors globally.
  • The precise significance and utility of this approach in patient treatment remain uncertain.

Purpose of the Study:

  • To evaluate the feasibility and clinical utility of gene panel sequencing in treating refractory tumors at a specific hospital.
  • To assess the rate of actionable genomic alterations and their translation into targeted therapies.

Main Methods:

  • Retrospective analysis of 39 patients with advanced solid tumors treated between 2018-2020.
  • Genomic profiling of tumor tissue samples from 36 patients with suitable quality samples.

Main Results:

  • Pathogenic alterations were found in 78% of analyzed tumors.
  • TP53 (55%) and KRAS (22%) mutations were most common; ERBB2 amplification occurred in 17%.
  • Nine patients (25%) were identified as candidates for targeted therapy, but only one received it.

Conclusions:

  • Clinical sequencing effectively detects pathogenic alterations in refractory tumors.
  • Translating genomic findings into actual therapy is hindered by factors like clinical decline and access issues.
  • Optimizing the timing of sequencing and establishing consensus on off-label use could improve patient benefit.