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Related Experiment Video

Updated: Oct 26, 2025

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

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Published on: November 5, 2019

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Resource-efficient pooled sequencing expands translational impact in solid tumors.

Renzo G DiNatale1,2,3, Roy Mano3, Vladimir Makarov2

  • 1Computational Oncology Service, Epidemiology & Biostatistics Department, Memorial Sloan Kettering Cancer Center, New York, USA.

Kidney Cancer Journal : Official Journal of the Kidney Cancer Association
|July 28, 2021
PubMed
Summary
This summary is machine-generated.

Pooled multiregional sequencing offers a cost-effective solution for cancer genetic heterogeneity. This method enhances mutation detection and patient stratification, improving cancer management with reduced costs.

Keywords:
cancer evolutioncancer genomicsclonalityintratumoral heterogeneitynext-generation sequencingsomatic mutation

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Area of Science:

  • Oncology
  • Genomics
  • Translational Medicine

Background:

  • Intratumoral genetic heterogeneity (ITH) complicates cancer management using sequencing.
  • Multiregional sequencing addresses ITH but increases costs and resource use.
  • Preserving tissue for secondary analyses is crucial in clinical settings.

Purpose of the Study:

  • To introduce a cost-effective pooled multiregional sequencing strategy.
  • To address the challenges posed by ITH in cancer management.
  • To enhance the translational value of sequencing by preserving residual tissue.

Main Methods:

  • Proposing a pooled multiregional sequencing approach, mixing DNA from multiple tumor regions before sequencing.
  • Applying the strategy to kidney cancer and non-small-cell lung cancer datasets.
  • Evaluating improvements in mutation detection, clonality attribution, risk stratification, and tumor mutational burden (TMB) detection.

Main Results:

  • DNA pooling from as few as two regions significantly increased mutation detection in kidney cancer.
  • The method reduced clonality misattribution and improved patient risk stratification.
  • Pooled sequencing substantially improved tumor mutational burden (TMB) detection in non-small-cell lung cancer.

Conclusions:

  • Pooled multiregional sequencing is a cost-effective strategy to address ITH.
  • This approach enhances mutation detection and clinical decision-making in cancer.
  • The strategy offers comparable accuracy to traditional multiregional sequencing at lower costs.