Feasibility and Value of Genomic Profiling in Cancer of Unknown Primary: Real-World Evidence From Prospective Profiling Study

Authors

Ryan W Huey
Aakash Tushar Shah
Honey V Reddi
Priyadarsini Dasari
James T Topham
Hyunsoo Hwang
Nishat Dhillon
Anneleis 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

Publication Date

8-8-2023

Journal

Journal of the National Cancer Institute

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.

Keywords

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

DOI

10.1093/jnci/djad095

PMID

37202363

PMCID

PMC10407690

PubMedCentral® Posted Date

May 2023

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes