CAP advocates for molecular testing to improve diagnosis of difficult tumors

The College of American Pathologists (CAP) has published a new article advocating for molecular testing for cancers of unknown primary (CUP) and other diagnostically ambiguous tumors, according to an announcement.

The article, titled “Utility of Molecular Testing in the Diagnostic Workup of Difficult-to-Classify Tumors,” highlights the benefits of genomic, transcriptomic, and epigenetic profiling for pinpointing tumor origin, leading to personalized treatment for patients. CAP states that “molecular profiling can provide critical additional insight when conventional approaches fall short.”

Furthermore, “the article highlights how molecular features, especially recurrent genomic alterations and mutational signatures, can suggest tumor type or site of origin in various clinical scenarios and, in some cases, change the variant categorization of actionable targets for therapy.” The article also points to “the growing role of machine learning and artificial intelligence–based algorithms in tumor classification, while emphasizing the importance of understanding their capacities and potential limitations, and interpreting results within the full clinical and pathologic context.”