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Updated: Aug 28, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Combined Focused Next-Generation Sequencing Assays to Guide Precision Oncology in Solid Tumors: A Retrospective
Thomas S Tarawneh1, Fiona R Rodepeter2, Julia Teply-Szymanski2
1Department of Hematology, Oncology and Immunology, Philipps-University Marburg, Baldingerstraße, 35043 Marburg, Germany.
Background:
Increasing knowledge of cancer biology and an expanding spectrum of molecularly targeted therapies provide the basis for precision oncology. Despite extensive gene diagnostics, previous reports indicate that less than 10% of patients benefit from this concept.
Methods:
We retrospectively analyzed all patients referred to our center's Molecular Tumor Board (MTB) from 2018 to 2021. Molecular testing by next-generation sequencing (NGS) included a 67-gene panel for the detection of short-sequence variants and copy-number alterations, a 53- or 137-gene fusion panel and an ultra-low-coverage whole-genome sequencing for the detection of additional copy-number alterations outside the panel's target regions. Immunohistochemistry for microsatellite instability and PD-L1 expression complemented NGS.
Results:
A total of 109 patients were referred to the MTB. In all, 78 patients received therapeutic proposals (70 based on NGS) and 33 were treated accordingly. Evaluable patients treated with MTB-recommended therapy (n = 30) had significantly longer progression-free survival than patients treated with other therapies (n = 17) (4.3 vs. 1.9 months, p = 0.0094). Seven patients treated with off-label regimens experienced major clinical benefits.
Conclusion:
The combined focused sequencing assays detected targetable alterations in the majority of patients. Patient benefits appeared to lie in the same range as with large-scale sequencing approaches.
Insights
Precision oncology molecular tumor boards identified targetable alterations in most patients. Recommended therapies improved progression-free survival, demonstrating the value of molecular profiling in cancer treatment.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Precision oncology aims to tailor cancer treatments based on molecular profiles.
- Despite advances, less than 10% of patients benefit from current precision oncology approaches.
- Molecular Tumor Boards (MTBs) integrate genomic data for treatment recommendations.
Purpose of the Study:
- To evaluate the utility of a Molecular Tumor Board (MTB) in identifying targetable alterations and guiding cancer therapy.
- To assess the clinical benefit of MTB-recommended therapies compared to other treatment strategies.
Main Methods:
- Retrospective analysis of 109 patients referred to an MTB from 2018-2021.
- Comprehensive molecular profiling including next-generation sequencing (NGS) gene panels (67-gene, 53/137-gene fusion), whole-genome sequencing, and immunohistochemistry for MSI and PD-L1.
- Therapeutic proposals were generated, and treatment decisions were tracked.
Main Results:
- Therapeutic proposals were made for 78 patients, with 33 treated based on MTB recommendations.
- Patients treated with MTB-recommended therapy (n=30) showed significantly longer progression-free survival (4.3 months) than those on other therapies (n=17, 1.9 months; p=0.0094).
- Seven patients on off-label regimens experienced major clinical benefits.
Conclusions:
- Combined focused sequencing assays effectively detected targetable alterations in the majority of referred patients.
- MTB-guided therapy demonstrated improved progression-free survival, supporting the integration of molecular profiling in clinical practice.
- The observed patient benefits align with outcomes from large-scale sequencing approaches.
