Histopathological Evaluation and Molecular Diagnostic Tests for Peritoneal Metastases with Unknown Primary Site-a...

Cancer of unknown primary (CUP) is a well-studied entity with guidelines available for the management of patients with CUP. The peritoneum represents one of the metastatic sites in CUP, and peritoneal metastases (PM) could present as CUP. PM of unknown origin remains a poorly studied clinical entity. There is only one series of 15 cases, one population-based study, and few other case reports on this subject. Studies on CUP, in general, cover some common tumour histological types like adenocarcinomas and squamous carcinomas. Some of these tumours may have a good prognosis though majority have high-grade disease with a poor long-term outcome. Some of the histological tumour types commonly seen in the clinical scenario of PM like mucinous carcinoma have not been studied. In this review, we divide PM into five histological types-adenocarcinomas, serous carcinomas, mucinous carcinomas, sarcomas and other rare varieties. We provide algorithms to identify the primary tumour site using immunohistochemistry when imaging, and endoscopy fails to establish the primary tumour site. The role of molecular diagnostic tests for PM or unknown origin is also discussed. Current literature on site-specific systemic therapy based on gene expression profiling does not show a clear benefit of this approach over empirical systemic therapies.