Liquid biopsy: a new diagnostic, predictive and prognostic window in cancers of unknown primary

Abstract

Cancer of unknown primary (CUP) is a heterogeneous group of metastatic cancers characterised by early dissemination of metastases in the absence of any identifiable primary site. Most patients with CUP have poor prognosis with the traditional diagnostic and treatment modalities. Recognising the putative primary tumour is hypothesised to ameliorate the prognosis of patients with CUP by guiding treatment decisions. The active efforts in molecular oncology have shown that gene expression profiling is able to identify the primary tumour site and to determine targetable mutations. In this regard, liquid biopsy opens a new diagnostic, predictive and prognostic window in CUP that may lead to substantial improvement in the management of patients with CUP.

Keywords: Cancer of unknown primary; Circulating tumour DNA; Circulating tumour cells; Liquid biopsy.