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Feasibility and value of genomic profiling in cancer of unknown primary: real-world evidence from prospective profiling study

Ryan Huey, Aakash Tushar Shah, Honey V. Reddi, Priyadarsini Dasari, James T. Topham, Hyunsoo Hwang, Nishat Dhillon, Anneleis F. Willett, Brandon G. Smaglo, Jeannelyn S. Estrella, Asif Rashid, Aurelio Matamoros, Michael J. Overman, Linda Choquette, Greg Omerza, Kevin Kelly, Xuemei Wang, Jonathan M. Loree, Jens Rueter, Gauri R. Varadhachary, Kanwal Raghav

2023JNCI Journal of the National Cancer Institute21 citationsDOIOpen Access PDF

Abstract

Real-world evidence regarding the value of integrating genomic profiling (GP) in managing cancer of unknown primary (CUP) is limited. We assessed this clinical utility using a prospective trial of 158 patients with CUP (October 2016-September 2019) who underwent GP using next-generation sequencing designed to identify genomic alterations (GAs). Only 61 (38.6%) patients had sufficient tissue for successful profiling. GAs were seen in 55 (90.2%) patients of which GAs with US Food and Drug Administration-approved genomically matched therapy were seen in 25 (40.9%) patients. A change in therapy was recommended and implemented (primary endpoint of the study) in 16 (10.1%) and 4 (2.5%) patients of the entire study cohort, respectively. The most common reason for inability to implement the profiling-guided therapy was worsening of performance status (56.3%). Integrating GP in management of CUP is feasible but challenging because of paucity of tissue and aggressive natural history of the disease and requires innovative precision strategies.

Topics & Concepts

Profiling (computer programming)MedicineClinical endpointProspective cohort studyOncologyInternal medicineClinical trialBioinformaticsBiologyOperating systemComputer scienceCancer Diagnosis and TreatmentTumors and Oncological CasesHead and Neck Cancer Studies
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