Advances in the diagnosis and treatment of cancer of unknown primary in the genom-ic era / 中国肿瘤临床

ABSTRACT

A cancer of unknown primary (CUP), defined as a histologically confirmed metastatic cancer for which the primary site could not be identified after detailed investigations,accounts for 3%-10% of all malignancies.The diagnostic work-up in CUP relies mainly on imaging and histopathology with specific immunohistochemistry,while approaches of gene expression profiling and epig-enomics help precisely identify the primary site in the genomic era.Nevertheless,these approaches have not been widely used in clini-cal practice.Hence,essential and crucial steps are necessary to facilitate the use of such approaches in clinical practice.CUP is a het-erogeneous group of cancers,with low efficiency under traditional empirical treatment.However,identification of favorable subsets (accounting for 15%-20%)and organ-specific treatments could improve patients' survival.Moreover,molecular detection and applica-tion of next-generation sequencing offer the prospect of individualized targeted therapy with novel agents in CUP.Recently,with the development of immunotherapy,we are looking forward to breakthroughs in targeted therapy and immunotherapy for CUP.