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Updated: Oct 8, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Next-Generation Sequencing-Based Molecular Profiling and Management of Advanced Solid Tumors: A Real-World Experience
Gayathri Moorthy1,2, Annette Sereika1, Karen Kaul3
1Neaman Center for Personalized Medicine, Evanston, Illinois, USA.
Background:
Advances in molecular and cell biology have led to a paradigm shift in cancer management. We implemented next-generation sequencing (NGS) at our community-based academic cancer center over a decade ago. We sought to optimize the use of genomics and understand its impact in identifying actionable genomic alterations to determine therapy options in patients with advanced solid tumors for whom standard therapies had been exhausted.
Methods:
Through a prospective non-randomized trial, patients with advanced solid tumors who had exhausted standard therapies and who did not qualify for routine guideline-concordant NGS at the time of the study (the study excluded at least Stage 1B lung and Stage IV colorectal cancers) underwent in-house NGS on tumor specimens to identify actionable alterations, and pharmacogenomic testing. Our in-house-developed/integrated bioinformatics pipeline (Flype) was used for structured reporting and served as a molecular knowledgebase. Patients were presented at a multidisciplinary molecular tumor board.
Results:
251 patients underwent somatic tissue NGS. 173 patients (68.9%) had alterations targetable with FDA-approved or currently investigational drugs. 75 patients (29.9%) had alteration(s) qualifying them for FDA-approved drug(s) for their tumor type. An additional 61 patients (24.3%) had alterations qualifying them for "off-label" use of FDA-approved drugs. 40 patients (15.9%) qualified for tumor-agnostic therapies. Of the 224 patients (89.2%) who had RNA analysis, eight (3.6%) had targetable fusions. Of the 33 patients (19.1%) who received NGS-guided targeted therapies, 19 (57.6%) were on treatment for longer than three months. 255 patients underwent pharmacogenomics testing, with over 40% having an alteration in typical response to opioids or antidepressants.
Conclusions:
In this real-world study, 54.2% of patients with advanced solid tumors were identified as candidates for FDA-approved therapies (on- or off-label), supporting the utility of in-house NGS in providing genomics-guided care for patients.
