Gene-expression assays and personalized cancer care: Tissue-of-origin test for cancer of unknown primary origin

Cancer of unknown primary (CUP) is one of the ten most frequently diagnosed cancers in developed countries and accounts for 3-5% of all new cancer cases. For all cancer management, chemotherapeutic regimens and targeted agents have increasingly become primary-site dependent over the last decade, and thus, accurate identification of the primary site is crucial for CUP patients. Histopathologic examination along with immunohistochemical studies and different imaging modalities are most often performed for this purpose, but still a significant number of patients remain with an unidentified primary. Recently, gene-expression profiling assays have emerged as alternative tests for tumor tissue of origin determination. It is expected that molecular determination of the origin in patients with CUP will aid in the determination of management strategies. It is thus possible that personalized treatment of CUP patients based on molecular classification could significantly improve patient outcomes.