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Related Experiment Video

Updated: May 27, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Personalized oncology through integrative high-throughput sequencing: a pilot study.

Sameek Roychowdhury¹, Matthew K Iyer, Dan R Robinson

¹Michigan Center for Translational Pathology, Ann Arbor, MI 48109, USA.

Science Translational Medicine

|December 3, 2011

Summary

High-throughput sequencing identifies actionable cancer mutations for targeted therapies. This pilot study demonstrates the feasibility of rapid, comprehensive genomic profiling to guide clinical trial selection for advanced cancer patients.

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Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Area of Science:

Oncology
Genomics
Translational Research

Background:

Individual cancers possess unique genetic alterations.
These aberrations can inform targeted therapy selection.
High-throughput sequencing offers a powerful tool for identifying these mutations.

Purpose of the Study:

To explore the practical challenges of applying high-throughput sequencing in clinical oncology.
To assess the feasibility of identifying actionable mutations within a clinically relevant timeframe.
To evaluate the utility of a multidisciplinary Sequencing Tumor Board (STB) in interpreting genomic data for patient care.

Main Methods:

Pilot study involving patients with advanced or refractory cancer eligible for clinical trials.
Comprehensive genomic profiling including whole-genome sequencing, targeted whole-exome sequencing, and transcriptome sequencing (RNA-Seq).
Multidisciplinary Sequencing Tumor Board (STB) for clinical interpretation of results.

Main Results:

Detected various cancer mutations: structural rearrangements, copy number alterations, point mutations, and gene expression alterations.
Successfully identified actionable mutations in two patients within 24 days of biopsy.
Case 1 (colorectal cancer): Identified NRAS, TP53, AURKA, FAS, MYH11 mutations, and CDK8 amplification/overexpression.
Case 2 (melanoma): Identified HRAS mutation and CDKN2C rearrangement.

Conclusions:

Integrative high-throughput sequencing generates a comprehensive individual mutational landscape for advanced cancer.
This approach facilitates biomarker-driven clinical trial enrollment.
The findings support the integration of rapid genomic profiling into routine clinical oncology practice.