Abstract
BackgroundDescribe a single-center real-world experience with comprehensive genomic profiling (CGP) to identify genotype directed therapy (GDT) options for patients with malignancies refractory to standard treatment options.MethodsPatients who had CGP by a CLIA-certified laboratory between November 2012 and December 2015 were included. The medical records were analyzed retrospectively after Institutional Review Board (IRB) approval. The treating oncologist made the decision to obtain the assay to provide potential therapeutic options. The objectives of this study were to determine the proportion of patients who benefited from GDT, and to identify barriers to receiving GDT.ResultsA total of 125 pediatric and adult patients with a histologically confirmed diagnosis of malignancy were included. Among these, 106 samples were from adult patients, and 19 samples were from pediatric patients. The median age was 54 years for adults. The majority had stage IV malignancy (53%) and were pretreated with 2–3 lines of therapy (45%). The median age was 8 years for pediatric patients. The majority had brain tumors (47%) and had received none or 1 line of therapy (58%) when the profiling was requested. A total of 111 (92%) patients had genomic alterations and were candidates for GDT either via on/off-label use or a clinical trial (phase 1 through 3). Fifteen patients (12%) received GDT based on these results including two patients who were referred for genomically matched phase 1 clinical trials. Three patients (2%) derived benefit from their GDT that ranged from 2 to 6 months of stable disease.ConclusionsCGP revealed potential treatment options in the majority of patients profiled. However, multiple barriers to therapy were identified, and only a small minority of the patients derived benefit from GDT.
Highlights
Describe a single-center real-world experience with comprehensive genomic profiling (CGP) to identify genotype directed therapy (GDT) options for patients with malignancies refractory to standard treatment options
Carcinogenesis is a multi-step process propelled by genomic alterations that leads to dysregulation of signaling pathways, which gives rise to qualities that enable tumor proliferation and dissemination [1]
Fifteen patients (12%) received GDT based on these results including two patients who were referred for genomically-matched phase 1 clinical trials
Summary
Describe a single-center real-world experience with comprehensive genomic profiling (CGP) to identify genotype directed therapy (GDT) options for patients with malignancies refractory to standard treatment options. Hilal et al BMC Cancer (2017) 17:602 breast cancers [4] and more recently approved for HER2 overexpressed gastric cancer, which represents the first targeted therapy in this malignancy [5] While these well-studied and validated alterations are routinely targeted in clinical practice, patients with other alterations in frequently mutated pathways may benefit from targeted therapies. Comprehensive genomic profiling (CGP) of tumors can provide insight into clinically relevant genetic alterations (CRGAs), with goals of guiding clinical decision-making and augmenting therapeutic options. The accessibility of this technology facilitates the shift towards precision medicine by identifying specific patient populations that are most likely to derive benefit from a particular therapy. The reasons for the marked divergence in patients profiled to have actionable mutations and those that receive GDT have not been systematically studied
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