Kanwal P.S. Raghav, MBBS, MD
Although diagnostic techniques have improved over the past several decades, cancers of unknown primary (CUP) origin are a lingering feature of clinical practice, frustrating attempts to develop new protocols through molecularly driven strategies.
Investigators are using gene expression profiling (GEP) to identify the primary tumor and help guide treatment decisions, and are taking advantage of next-generation sequencing (NGS) to find genomic alterations for which targeted therapies are available.
In a number of studies, GEP tests, also known as molecular cancer classifier assays, have been shown to identify primary cancer types with greater accuracy than immunohistochemistry (IHC) staining. In some cases, these results allow use of site-specific therapies for patients with CUP rather than less efficacious empiric chemotherapy.
However, with evidence lacking for improved survival after GEP, the assays are not recommended or widely used. Investigators say more data are needed from large multicenter trials to delineate CUP subtypes and gauge the impact of molecular profiling and site-specific therapies on patient outcomes.
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