Cancer of Unknown Primary (CUP): genetic evidence for a novel nosological entity? A case report.

ABSTRACT: Cancer of unknown primary (CUP) is an obscure disease characterized by multiple metastases in the absence of a primary tumor. No consensus has been reached whether CUPs are simply generated from cancers that cannot be detected or whether they are the manifestation of a still unknown nosological entity. Here, we report the complete expression and genetic analysis of multiple synchronous metastases harvested at warm autopsy of a patient with CUP. The expression profiles were remarkably similar and astonishingly singular. The whole exome analysis yielded a high number of mutations present in all metastases (fully shared), additional mutations (partially shared) accumulated one after another in a series, and few private mutations were unique to each metastasis. Surprisingly, the phylogenetic t

SUBMITTER: Benvenuti S 

PROVIDER: S-EPMC7338804 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature