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Article 13, 1/2017


How to Diagnose and Treat a Cancer of Unknown Primary Site

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Ciprian Tomuleasa1,2,3*, Florin Zaharie4,5*, Mihai-Stefan Muresan4,6, Laura Pop2, Zsolt Fekete7,8, Delia Dima3, Ioana Frinc1,3, Adrian Trifa3,9, Cristian Berce10, Ancuta Jurj2, Ioana Berindan-Neagoe2, Mihnea Zdrenghea1,3, Tudor-Eliade Ciuleanu7,11

Departments of
1) Hematology, 2) Research Center for Functional Genomics and Translational Medicine, 4) Surgery, 7) Radiotherapy/Oncology, 9) Genetics, and 10) Animal Facility; Iuliu Hatieganu University of Medicine and Pharmacy;
Departments of
3) Hematology, 6) Surgery, 8) Radiotherapy and 11) Chemotherapy, Ion Chiricuta Oncology Institute;
5) Department of Surgery, Octavian Fodor Regional Institute of Gastroenterology and Hepatology,
Cluj Napoca, Romania.

DOI: http://dx.doi.org/10.15403/jgld.2014.1121.261.haz

Almost one in every three patients with advanced tumors have distant metastasis at the time of clinical diagnosis. In most cases, the primary tumor site is identified immediately, within a few days. But for some patients, the primary lesion cannot be found after the initial clinical assessment. These cases are called cancers of unknown primary origin (CUPs), a clinical diagnosis very difficult to manage by physicians due to the absence of a standard-of-care for the initial therapeutic regimen, as well as due to the impossibility to include these cases in randomized clinical trials. A cancer of unknown primary site is often associated with a poor prognosis as patients are usually treated with a non-selective empirical therapy. In the current paper, we summarize both the diagnostic challenges for patients with a cancer of unknown primary site as well as the current available therapeutic options, with emphasis on the management of this unique disease entity.
Key words: cancers of unknown primary site – differential diagnosis – clinical management.
Abbreviations: AFP: α-fetoprotein; AR: androgen receptor; Bcl 2: B-cell chronic lymphocytic leukemia/lymphoma 2; BM: basement membrane; HPV: human papilloma virus; CD: cluster of differentiation; CEA: carcinoembryonic antigen; CK: cytokeratin; CTC: circulating tumor cell; DTC: disseminated tumor cell; FISH: fluorescence in situ hybridization; GI: gastrointestinal; IHC: immunohistochemistry; MPO: myeloperoxidase; MSA: muscle-specific actin; OCT4: octamer-binding transcription factor 4; p504S: α-methylacyl-CoA racemase; PS: performance status; PSA: prostate-specific antigen; S100P: placental S100 protein; WT1: Wilms tumor 1.