{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Benvenuti S"],"funding":["Associazione Italiana per la Ricerca sul Cancro","Ministero della Salute","Telethon","Associazione Italiana per la Ricerca sul Cancro (AIRC)","FPRC 5x1000 2014 Ministero Salute","Ministero della Salute (Ministry of Health, Italy)"],"pagination":["e11756"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7338804"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(7)"],"pubmed_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"],"journal":["EMBO molecular medicine"],"pubmed_title":["Cancer of Unknown Primary (CUP): genetic evidence for a novel nosological entity? A case report."],"pmcid":["PMC7338804"],"funding_grant_id":["TGM6S01","21052"],"pubmed_authors":["Sapino A","Gambardella G","Comoglio PM","Milan M","Geuna E","Boccaccio C","Benvenuti S","Montemurro F","Senetta R","Stella GM","Pisacane A"],"additional_accession":[]},"is_claimable":false,"name":"Cancer of Unknown Primary (CUP): genetic evidence for a novel nosological entity? A case report.","description":"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","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Jul","modification":"2025-05-29T19:52:36.391Z","creation":"2025-05-29T19:52:36.391Z"},"accession":"S-EPMC7338804","cross_references":{"pubmed":["32511869"],"doi":["10.15252/emmm.201911756"]}}