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, although two were diagnosed with pulmonary metastatic PGLs. Four patients were diagnosed with bilateral PCCs. Four patients were diagnosed with tumor syndromes. Among the 15 patients, nine were identified carrying germline mutations, of which seven were VHL and one each of RET and SDHB. In addition, a de novo mutation, VHL c.193T>A, was identified in a patient clinically diagnosed with a VHL syndrome. CONCLUSIONS: Among 15 pediatric patients studied, nine were identified carrying germline genetic mutations, four were diagnosed with bilateral PCCs, and four were diagnosed with other syndromic tumors in addition to PCC, which underscores the importance of genetic testing and managing treatment accordingly.