Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China.

ABSTRACT:

Background

Although 40% to 80% of pediatric patients with pheochromocytoma (PCC) and paraganglioma (PGL) have been reported to carry germline mutations, the genetic and clinical features are poorly understood, and few such patients have undergone genetic testing. In this series, we aimed to investigate the clinical and genetic features of Han Chinese pediatric patients with PCC/PGL.

Methods

The medical records of 15 pediatric patients with PCC/PGL who presented to our hospital between 2006 and 2018 were retrospectively studied. DNAs isolated from leukocytes of the patients were analyzed using whole-exome sequencing (WES).

Results

The patients were nine girls and six boys with a mean age of 14.9 (range, 6-18) years. All were alive after a follow-up from 1 to 12 years,

SUBMITTER: Li M 

PROVIDER: S-EPMC7214975 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature