Complete genomic characterization in patients with cancer of unknown primary origin in routine diagnostics.

ABSTRACT:

Background

In ∼3%-5% of patients with metastatic disease, tumor origin remains unknown despite modern imaging techniques and extensive pathology work-up. With long diagnostic delays and limited and ineffective therapy options, the clinical outcome of patients with cancer of unknown primary (CUP) remains poor. Large-scale genome sequencing studies have revealed that tumor types can be predicted based on distinct patterns of somatic variants and other genomic characteristics. Moreover, actionable genomic events are present in almost half of CUP patients. This study investigated the clinical value of whole genome sequencing (WGS) in terms of primary tumor identification and detection of actionable events, in the routine diagnostic work-up of CUP patients.

Patients and methods

A

SUBMITTER: Schipper LJ 

PROVIDER: S-EPMC9808446 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature