Impact of whole genome sequencing on the care pathway for patients with cancer of unknown primary.

ABSTRACT:

Background

Patients with metastatic disease and no identifiable primary tumor, thus diagnosed with cancer of unknown primary (CUP), typically have a poor prognosis. Tumor DNA sequencing has recently shown promise in identifying the molecular tissue of origin. This study evaluated the value of whole genome sequencing (WGS) in the CUP care pathway, by comparing patient outcomes with a historical control cohort. Also, the value of whole transcriptome sequencing (WTS) was explored.

Patients and methods

A prospective intervention cohort was established of provisional CUP patients (≥18 years of age) who had WGS carried out on metastatic tissue between August 2021 and August 2023. A control cohort was established of CUP patients (≥18 years of age) diagnosed between December 2016 an

SUBMITTER: Droogers E 

PROVIDER: S-EPMC12136782 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature