scholarly journals Enabling a Genetically Informed Approach to Cancer Medicine: A Retrospective Evaluation of the Impact of Comprehensive Tumor Profiling Using a Targeted Next‐Generation Sequencing Panel

2014 ◽  
Vol 19 (6) ◽  
pp. 616-622 ◽  
Author(s):  
Douglas B. Johnson ◽  
Kimberly H. Dahlman ◽  
Jared Knol ◽  
Jill Gilbert ◽  
Igor Puzanov ◽  
...  
2018 ◽  
Vol 71 (11) ◽  
pp. 1001-1006 ◽  
Author(s):  
David Allan Moore ◽  
Kevin Balbi ◽  
Alexander Ingham ◽  
Hendrik-Tobias Arkenau ◽  
Philip Bennett

AimsTargeted next-generation sequencing (tNGS) is increasingly being adopted as an alternative to single gene testing in some centres. Our aim was to assess the overall fitness and utility of tNGS as a routine clinical test in non-small cell lung cancer (NSCLC).MethodsAll NSCLC cases submitted to a single laboratory for tNGS analysis over a 3-year period were included. Rejection/failure rates and turnaround times were calculated. For reportable cases, data relating to observed genetic changes likely to be driving tumour growth and/or contributing to therapeutic resistance were extracted. The impact of varied referral site practices (tissue processing and sample format submitted) on analytical outcomes was also considered.ResultsA total of 2796 cases were submitted, of which 217 (7.8%) were rejected and 131 (5.1%) failed. The median turnaround time was seven working days. Of 2448 reported cases, KRAS, EGFR or other recognised driver mutations were observed in 35%, 17% and 5.4%, respectively. Of the remaining cases, 3.5% demonstrated significant incidental evidence of gene amplification. In 15% of EGFR-driven cases, evidence of an EGFR tyrosine kinase inhibitor resistance mechanism was observed. Potential concerns around the provision of slides or precut ‘rolls’ only (cf, formalin fixed paraffin embedded (FFPE) tissue blocks) as standard practice by certain referral sites were identified.ConclusionsA tNGS panel approach is practically achievable, with acceptable success rates and turnaround times, in the context of a routine clinical service. Furthermore, it provides additional clinically and analytically relevant information, which is not available from single gene testing alone.


Cancers ◽  
2021 ◽  
Vol 13 (22) ◽  
pp. 5750
Author(s):  
Arnaud Bayle ◽  
Debora Basile ◽  
Simon Garinet ◽  
Bastien Rance ◽  
Pierre Laurent-Puig ◽  
...  

In digestive oncology, the clinical impact of targeted next-generation sequencing (NGS) in routine practice should be addressed. In this work, we studied the impact of a 22-gene NGS amplicon-based panel with Ion Torrent Proton Sequencing, prospectively performed in routine practice. We analyzed the results of extended molecular testing, beyond RAS and BRAF, in metastatic colorectal cancer (mCRC) patients in a single-center, retrospective, observational study of consecutive mCRC patients followed up at the Georges Pompidou European Hospital between January 2016 and December 2018. Overall, 210 patients with mCRC were included. Median follow-up was 25.4 months (IQR: 14.9–39.5). The three most frequently mutated genes were: TP53 (63%), KRAS (41%) and PIK3CA (19%). A positive association was found between overall survival and performance status (PS) ≥ 2 (HR: 4.91 (1.84–13.1); p = 0.001) and differentiation (HR: 4.70 (1.51–14.6); p = 0.007) in multivariate analysis. The NGS panel enabled five patients to access a targeted therapy not currently registered for CRC. In conclusion, targeted NGS panels in mCRC are feasible in routine practice, but need to be regularly updated and in-depth studies are needed to better analyze the prognostic factors.


2015 ◽  
Vol 33 (15_suppl) ◽  
pp. e22175-e22175
Author(s):  
Raphael Brandao Moreira ◽  
Marcelo Rocha S Cruz ◽  
Jessica Ribeiro Gomes ◽  
Tercia Tarciane Soares de Sousa ◽  
Marcus Paulo Fernandes Amarante ◽  
...  

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