Mutational Signature and Transcriptomic Classification Analyses as the Decisive Diagnostic Tools for a Cancer of Unknown Primary.

摘要: PurposeCancer of unknown primary is a group metastatic tumors in which the standard diagnostic workup fails to identify site origin tumor. The potential impact precision oncology on this patients large, because actionable driver mutations and correct diagnosis could provide treatment options otherwise not available for with these fatal cancers. This study investigated if comprehensive genomic analyses information tumor.Patients MethodsHere we describe patient whose tumor was misdiagnosed at least three times. Next-generation sequencing, patient-derived xenograft mouse model, bioinformatics were used an mutation, predict resistance development targeted therapy, correctly diagnose Transcriptomic classification benchmarked using Cancer Genome Atlas (TCGA).ResultsDespite lack known absence immunohistochemi...