Related Experiment Video
Updated: Jan 19, 2026
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
Integrating a Next Generation Sequencing Panel into Clinical Practice in Ovarian Cancer
Yong Jae Lee1, Dachan Kim1, Hyun Soo Kim2
1Department of Obstetrics and Gynecology, Institute of Women's Life Medical Science, Yonsei University College of Medicine, Seoul, Korea.
Purpose:
Few efforts have been made to integrate a next generation sequencing (NGS) panel into standard clinical treatment of ovarian cancer. The aim of this study was to investigate the clinical utility of NGS and to identify clinically impactful information beyond targetable alterations.
Materials And Methods:
We conducted a retrospective review of 84 patients with ovarian cancer who underwent NGS between March 1, 2017, and July 31, 2018, at the Yonsei Cancer Hospital. We extracted DNA from formalin-fixed, paraffin-embedded tissue samples of ovarian cancer. The TruSight Tumor 170 gene panel was used to prepare libraries, and the MiSeq instrument was used for NGS.
Results:
Of the 84 patients, 55 (65.1%) had high-grade serous carcinomas. Seventy-three (86.7%) patients underwent NGS at the time of diagnosis, and 11 (13.3%) underwent NGS upon relapse. The most common genetic alterations were in TP53 (64%), PIK3CA (15%), and BRCA1/2 (13%), arising as single nucleotide variants and indels. MYC amplification (27%) was the most common copy number variation and fusion. Fifty-seven (67.9%) patients had more than one actionable alteration other than TP53. Seven (8.3%) cases received matched-target therapy based on the following sequencing results: BRCA1 or 2 mutation, poly ADP ribose polymerase inhibitor (n=5); PIK3CA mutation, AKT inhibitor (n=1); and MLH1 mutation, PD-1 inhibitor (n=1). Fifty-three (63.0%) patients had a possibility of treatment change, and 8 (9.5%) patients received genetic counseling.
Conclusion:
Implementation of NGS may help in identifying patients who might benefit from targeted treatment therapies and genetic counseling.
Insights
Next-generation sequencing (NGS) in ovarian cancer identified actionable alterations in most patients, guiding targeted therapies and genetic counseling. This approach reveals significant clinical utility beyond common mutations.
Area of Science:
- Oncology
- Genomics
- Clinical Diagnostics
Background:
- Integration of next-generation sequencing (NGS) panels into standard ovarian cancer care remains limited.
- Understanding the full clinical utility of NGS beyond identifying targetable alterations is crucial for treatment optimization.
Purpose of the Study:
- To investigate the clinical utility of NGS in ovarian cancer patients.
- To identify clinically impactful genetic information beyond known targetable alterations.
Main Methods:
- Retrospective review of 84 ovarian cancer patients who underwent NGS.
- DNA extraction from formalin-fixed, paraffin-embedded tissue samples.
- Utilized the TruSight Tumor 170 gene panel and MiSeq instrument for sequencing.
Main Results:
- High-grade serous carcinoma was prevalent (65.1%). Common alterations included TP53 (64%), PIK3CA (15%), and BRCA1/2 (13%) mutations, and MYC amplification (27%).
- Over two-thirds of patients (67.9%) had multiple actionable alterations beyond TP53.
- Eight patients (9.5%) received targeted therapies (PARP, AKT, PD-1 inhibitors) based on NGS results, and 63% had potential treatment changes.
Conclusions:
- NGS implementation aids in identifying ovarian cancer patients eligible for targeted therapies.
- NGS can provide valuable information for genetic counseling and potential treatment modifications.
