The current state of molecular testing in the treatment of patients with solid tumors, 2019

Abstract

The world of molecular profiling has undergone revolutionary changes over the last few years as knowledge, technology, and even standard clinical practice have evolved. Broad molecular profiling is now nearly essential for all patients with metastatic solid tumors. New agents have been approved based on molecular testing instead of tumor site of origin. Molecular profiling methodologies have likewise changed such that tests that were performed on patients a few years ago are no longer complete and possibly inaccurate today. As with all rapid change, medical providers can quickly fall behind or struggle to find up-to-date sources to ensure he or she provides optimum care. In this review, the authors provide the current state of the art for molecular profiling/precision medicine, practice standards, and a view into the future ahead.

Keywords: biomarkers; cancer; drug target; gene expression profiling; molecular profiling; molecular-targeted therapy; mutation; precision medicine; sequence analysis.

Figure 1

Venn Diagram of the Relationships Between High Tumor Mutational Burden (TMB), High Microsatellite Instability (MSI‐H), and High Programmed Death–Ligand 1 (PD‐L1) for All Cancer Types.10