Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study.

ABSTRACT:

Context

Carriers of succinate dehydrogenase type B (SDHB) pathogenic variants (PVs) are at risk of pheochromocytoma and paraganglioma (PPGL) from a young age. It is widely recommended carriers enter a surveillance program to detect tumors, but there are limited studies addressing outcomes of surveillance protocols for SDHB PV carriers.

Objective

The purpose of this study was to describe surveillance-detected (s-d) tumors in SDHB PV carriers enrolled in a surveillance program and to compare their outcomes to probands.

Methods

This was a multicenter study of SDHB PV carriers with at least 1 surveillance episode (clinical, biochemical, imaging) in Australian genetics clinics. Data were collected by both retrospective and ongoing prospective follow-up. Median duration of

SUBMITTER: Davidoff DF 

PROVIDER: S-EPMC9016424 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature