Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.

ABSTRACT:

Objectives

Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours with malignant potential and a hereditary basis in almost 40% of patients. Germline genetic testing has transformed the management of PPGL enabling stratification of surveillance approaches, earlier diagnosis and predictive testing of at-risk family members. Recent studies have identified somatic mutations in a further subset of patients, indicating that molecular drivers at either a germline or tumour level can be identified in up to 80% of PPGL cases. The aim of this study was to investigate the clinical utility of somatic sequencing in a large cohort of patients with PPGL in the United Kingdom.

Design and patients

Prospectively collected matched germline and tumour samples (development

SUBMITTER: Winzeler B 

PROVIDER: S-EPMC9543043 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature