Pediatric Patients with Pheochromocytoma and Paraganglioma should have routine preoperative genetic testing for common susceptibility genes and imaging to detect extra-adrenal and metastatic tumors

Abstract

Background

Pediatric pheochromocytomas and paragangliomas (PC/PGLs) are rare with limited data as to what the optimal management approach is. The aim of this study was to determine the role of genetic testing and imaging to detect extra-adrenal and/or metastatic tumors in pediatric PC/PGLs.

Methods

A retrospective study of 55 patients diagnosed at ≤ 21 years of age with PC/PGLs was performed with analysis of data on genetic testing and multimodal imaging.

Results

Eighty percent of patients (n=44/55) had a germline mutation. The majority were found to have either VHL (38%) or SDHB (25.4%) mutation. PC was present in 67% (n=37/55) of patients and was bilateral in 51.3% (n=19/37). The majority of patients with bilateral PC had VHL (79%). Abdominal PGL was present in 21.8% (n=12/55), head and neck PGL in 11% (n=6/55) and thoracic PGL in 3.6% (n=2/55) of patients. For PGL, SDHx accounted for 72% (n=13/18) of mutations. The rate of malignancy was 16.4% (n=9/55), 55.5% had SDHB mutations. In two-thirds of patients, functional imaging identified either extra-adrenal PGL and/or metastatic disease.

Conclusions

The majority of pediatric patients with PC/PGL have germline mutations. Therefore, all pediatric patients with PC/PGLs require genetic testing and imaging to detect extra-adrenal PGL and metastatic disease to guide treatment and follow up.