Cancer of unknown primary (CUP) represents a significant diagnostic and therapeutic challenge, being the third to fourth leading cause of cancer death, despite advances in diagnostic tools. This article presents a successful approach using a novel genomic analysis in the evaluation and treatment of a CUP patient, leveraging whole-exome sequencing (WES) and RNA sequencing (RNA-seq). The patient, with a history of multiple primary tumors including urothelial cancer, exhibited a history of rapid progression on empirical chemotherapy. The application of our approach identified a molecular target, characterized the tumor expression profile and the tumor microenvironment, and analyzed the origin of the tumor, leading to a tailored treatment. This resulted in a substantial radiological response across all metastatic sites and the predicted primary site of the tumor. We argue that a comprehensive genomic and molecular profiling approach, like the BostonGene© Tumor Portrait, can provide a more definitive, personalized treatment strategy, overcoming the limitations of current predictive assays. This approach offers a potential solution to an unmet clinical need for a standardized approach in identifying the tumor origin for the effective management of CUP.
Keywords: biomarkers; cancer of unknown primary; diagnostic tools; genomic testing; molecular targets; personalized treatment; tumor of origin.
Copyright © 2024 Al Assaad, Shin, Sigouros, Manohar, Antysheva, Kotlov, Kiriy, Nikitina, Kleimenov, Tsareva, Makarova, Fomchenkova, Dubinina, Boyko, Almog, Wilkes, Escalon, Saxena, Elemento, Sternberg, Nanus and Mosquera.