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Virchows Archiv
Published in: Virchows Archiv 4/2014

01-04-2014 | Review and Perspectives

Gene expression profiling in patients with carcinoma of unknown primary site: from translational research to standard of care

Authors: John D. Hainsworth, F. Anthony Greco

Published in: Virchows Archiv | Issue 4/2014

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Abstract

Carcinoma of unknown primary site (CUP) is diagnosed in approximately 3 % of patients with advanced cancer, and most patients have traditionally been treated with empiric chemotherapy. As treatments improve and become more specific for individual solid tumor types, therapy with a single empiric combination chemotherapy regimen becomes increasingly inadequate. Gene expression profiling (GEP) is a new diagnostic method that allows prediction of the site of tumor origin based on gene expression patterns retained from the normal tissues of origin. In blinded studies in tumors of known origin, GEP assays correctly identified the site of origin in 85 % of cases and compares favorably with immunohistochemical (IHC) staining. In patients with CUP, GEP is able to predict a site of origin in >95 % of patients versus 35–55 % for IHC staining. Although confirmation of the accuracy of these predictions is difficult, the diagnoses made by IHC staining and GEP are identical in 77 % of cases when IHC staining predicts a single primary site. GEP diagnoses appear to be most useful when IHC staining is inconclusive. Site-specific treatment of CUP patients based on GEP and/or IHC predictions appears to improve overall outcomes; patients predicted to have treatment-sensitive tumor types derived the most benefit. GEP adds to the diagnostic evaluation of patients with CUP and should be included when IHC staining is unable to predict a single site of origin. Site-specific treatment, based on tissue of origin diagnosis, should replace empiric chemotherapy in patients with CUP.
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Metadata
Title
Gene expression profiling in patients with carcinoma of unknown primary site: from translational research to standard of care
Authors
John D. Hainsworth
F. Anthony Greco
Publication date
01-04-2014
Publisher
Springer Berlin Heidelberg
Published in
Virchows Archiv / Issue 4/2014
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-014-1545-2

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