The use of gene expression profiling and mutation analysis increases the cost of care for patients with carcinoma of unknown primary; does it also improve survival?

Abstract

Carcinoma of unknown primary (CUP) signifies metastatic disease in the absence of a detectable primary site after adequate diagnostic evaluation [1]. The diagnosis carries a poor prognosis, with median survival of just 1 year when treated with cytotoxic agents in contemporary studies [2]. Until recently, the standard approach to CUP patients was to use first line treatment with a cytotoxic drug combination selected based upon the cancer’s histopathologic and immunohistochemical similarity to known primary site cancers [3,4]. Yet, in recent years, advances in genetic and personalized medicine have led to two principal areas of investigation, and departures from the historical treatment approach. Specifically, gene expression profiling can now suggest a tissue of origin (TOO) in previously indeterminate cases, and drug-able mutational analysis