Cancers of unknown primary (CUP) constitute a significant diagnostic and therapeutic challenge for clinicians and a frequent cause of cancer-related mortality in Western countries. Immunohistochemistry assays are commonly used to identify the primary cancer, but fail in approximately one-third of cases. The identification of the possible origin of CUP is crucial, as it may help select the appropriate treatment options. We herein present the case of a 54-year-old male patient, who presented with lower back pain in June, 2013. Following a thorough investigation, the clinical and pathological findings could not identify the primary cancer, leading towards a misdiagnosis. Ultimately, microRNA testing of the resected spine lesion was able to identify the primary tumor as male breast cancer and allow for optimal treatment of the patient.
Keywords: cancer of unknown primary; male breast cancer; microRNA profile.