Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield.

ABSTRACT:

Background

Practice guidelines to identify individuals with hereditary pheochromocytomas and paragangliomas (PPGLs) advocate for sequential gene testing strategy guided by specific clinical features and predate the routine use of multigene panel testing (MGPT).

Objective

To describe results of MGPT for hereditary PPGL in a clinically and ancestrally diverse cohort.

Setting

Commercial laboratory based in the United States.

Methods

Clinical data and test results were retrospectively reviewed in 1727 individuals who had targeted MGPT from August 2013 through December 2019 because of a suspicion of hereditary PPGL.

Results

Overall, 27.5% of individuals had a pathogenic or likely pathogenic variant (PV), 9.0% had a variant of uncertain significance, and 63.1%

SUBMITTER: Horton C 

PROVIDER: S-EPMC9016434 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature