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

Document Type

Article

Publication Date

8-8-2023

Keywords

JGM, Humans, Feasibility Studies, Gene Expression Profiling, Genomics, High-Throughput Nucleotide Sequencing, Neoplasms, Unknown Primary, Prospective Studies

JAX Source

J Natl Cancer Inst. 2023;115(8):994-7.

ISSN

1460-2105

PMID

37202363

DOI

https://doi.org/10.1093/jnci/djad095

Grant

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)

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.

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