Feasibility and value of genomic profiling in cancer of unknown primary: real-world evidence from prospective profiling study.
Feasibility and value of genomic profiling in cancer of unknown primary: real-world evidence from prospective profiling study. J Natl Cancer Inst. 2023;115(8):994-7.
JGM, Humans, Feasibility Studies, Gene Expression Profiling, Genomics, High-Throughput Nucleotide Sequencing, Neoplasms, Unknown Primary, Prospective Studies
J Natl Cancer Inst. 2023;115(8):994-7.
This work was supported in part by Painter Research Funds, The Jackson Laboratory and CCSG (Cancer Center Support Grant) Award from the National Institutes of Health (NIH) (P30 CA016672)
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.