Genomic profiling can reveal actionable mutations in patients with cancer of unknown primary (CUP) but can be limited by a lack of sufficient tissue, according to a study published in the Journal of the National Cancer Institute.

In this prospective study, researchers enrolled 158 patients with CUP. Most patients (61.4%) had insufficient or inadequate tissue, so genomic profiling was not performed.

Of the 61 patients who had sufficient tissue to undergo genomic profiling, 55 (90.2%) had genomic alterations. The median time from patient consent to tissue procurement was 34 days, and the median time to result reporting was 52 days.

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Profiling uncovered 524 genomic alterations. Alterations with approved therapies were found in 40.9% of patients who underwent genomic profiling (n=25).  

Changes to treatment based on profiling results were recommended for 16 patients, which translated to 26.2% of patients who underwent testing and 10.1% of the overall cohort.

However, only 4 patients ultimately had their treatment changed based on profiling results. This translated to 6.6% of all profiled patients and 2.5% of all patients studied. The most common reason patients were unable to receive profile-guided therapy was performance status.

“This cohort represents the largest prospective real-world experience of genomic profiling in patients with CUP reported to date,” the researchers noted. “Our study demonstrates feasibility of this approach but highlights significant challenges with its use in this patient population.”

“Implementing early NGS [next-generation sequencing] in CUP patients (e.g., at time of initial CUP diagnosis) may lead to earlier implementation of genome-targeted therapy,” the researchers added. “As the armamentarium of genome-targeted or genome-informed therapies grows, the importance of implementing an integrated precision strategy in CUP will only increase. Therefore, adoption of strategies that can overcome challenges associated with this approach are needed for CUP patients.”


Huey RW, Shah AT, Reddi HV, et al. Feasibility and value of genomic-profiling in cancer of unknown primary: Real-world evidence from prospective profiling study. J Natl Cancer Inst. Published online May 18, 2023. doi:10.1093/jnci/djad095

This article originally appeared on Cancer Therapy Advisor