Molecular tumor profiling has potential importance in identifying the tissue of origin in patients with cancer of unknown primary (CUP). We retrospectively performed the Tissue of Origin test, an FDA-cleared commercially available gene microarray assay, on biopsy specimens from patients with CUP. Assay results were correlated with clinical and pathologic features, and with previous results using the Veridex 10-gene CUP assay, a molecular RT-PCR assay designed to detect 6 primary sites.When performed retrospectively in several groups of patients with carcinoma of unknown primary site, molecular assays provided a putative diagnosis in the majority of patients. In general, these predictions were consistent with clinical features and with the results of standard pathologic evaluation. However, confirmation that the assay predictions were "correct" has been impossible in the majority of patients, since the actual primary site usually remains unidentified. In one small series, the correct primary site was predicted by assay of the original biopsy in 15 of 20 patients with an initial CUP diagnosis who subsequently had primary sites detected during their clinical course.In spite of these promising results from early studies, the role of molecular tumor profiling in the diagnosis of patients with CUP remains undefined. The relative merits of molecular profiling as compared to standard pathologic evaluation have not been completely defined.(John D. Hainsworth, RajiPillai, W David Henner, Meredith Halks-Miller, Cassie M Lane and F Anthony Greco, Molecular Tumor Profiling in the Diagnosis of Patients with Carcinoma of Unknown Primary Site: Retrospective Evaluation of Gene Microarray Assay)
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Last date updated on January, 2021