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Published on: April 11, 2016
Application of comprehensive molecular genetic profiling in precision cancer medicine, Hungarian experiences
Erika Tóth1, Zsófia Kürönya2, Edina Soós2
1National Institute of Oncology, National Tumor Biology Laboratory, Budapest, Hungary; Department of Surgical and Molecular Pathology, National Institute of Oncology, Budapest.
Abstract:
Recent developments in molecular genetic testing methods (e.g. next-generation sequencing [NGS]-panels) largely accelerated the process of finding the most appropriate targeted therapeutic intervention for cancer patients based on molecularly targetable genetic alterations. In Hungary, a centralized approval system following the recommendation of the National Molecular Tumor Board was launched for the coordination of all aspects of comprehensive genetic profiling (CGP) including patient selection and therapy reimbursement.
Aim:
The study aims to evaluate the clinical benefit of CGP in our Comprehensive Cancer Center Methods and patients: CGP was introduced into our routine clinical practice in 2021. An NGS-based large (> 500 genes) gene panel was used for cases where molecular genetic testing was approved by the National Molecular Tumor Board. From 2021 until August 2023 163 cases were tested. The majority of them were ECOG 0-1 patients with advanced-stage diseases, histologically rare cancer, or cancers with unknown primary tumours.
Results:
Seventy-four cases (74 of 163, 45%) had clinically relevant genetic alterations. In 34 patients, the identified variants represented an indication for an approved therapy (approved by the Hungarian authorities, on-label indication), while in 40 cases the recommended therapy did not have an approved indication in Hungary for certain tumour types, but off-label indication could be recommended. Based on our CGP results, 24 patients (24/163; 14.7%) received targeted therapy. Treatment duration was between 1 and 60 months. In total 14 (14/163; 8.5% of the tested cases) patients had a positive clinical response (objective response or stable disease) and were treated for more than 16 weeks.
Interpretation:
NGS-based CGP was successfully introduced in our institution and a significant number of patients benefited from comprehensive genetic tests. Our preliminary results can serve as the starting point of Drug Rediscovery Protocol (DRUP) studies.
Insights
Comprehensive genetic profiling (CGP) using next-generation sequencing (NGS) identified actionable targets in 45% of cancer patients. Over 14% received targeted therapy, with 8.5% showing positive clinical response, demonstrating CGP
Area of Science:
- Oncology
- Molecular Genetics
- Genomic Medicine
Background:
- Molecular genetic testing, particularly next-generation sequencing (NGS) panels, accelerates the identification of targeted therapies for cancer patients based on genetic alterations.
- Hungary implemented a centralized approval system for comprehensive genetic profiling (CGP) coordinated by the National Molecular Tumor Board, covering patient selection and therapy reimbursement.
Purpose of the Study:
- To evaluate the clinical benefit of comprehensive genetic profiling (CGP) in a Comprehensive Cancer Center setting.
- To assess the utility of NGS-based large gene panels for identifying actionable genetic alterations in diverse cancer patient populations.
Main Methods:
- CGP was integrated into routine clinical practice in 2021, utilizing an NGS-based panel (>500 genes).
- Testing was performed on cases approved by the National Molecular Tumor Board.
- 163 patients were tested between 2021 and August 2023, predominantly those with ECOG 0-1, advanced-stage disease, rare histologies, or unknown primary tumors.
Main Results:
- Clinically relevant genetic alterations were identified in 74 out of 163 patients (45%).
- Thirty-four patients (20.9%) had variants indicating an approved on-label therapy, while 40 patients (24.5%) had variants suggesting off-label therapy recommendations.
- Twenty-four patients (14.7%) received targeted therapy based on CGP results, with 14 patients (8.5%) experiencing a positive clinical response (objective response or stable disease) for over 16 weeks.
Conclusions:
- NGS-based CGP has been successfully implemented, providing significant benefit to a substantial number of cancer patients.
- These preliminary findings support the initiation of Drug Rediscovery Protocol (DRUP) studies to further explore therapeutic strategies based on comprehensive genetic testing.
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