title: Pediatric patients with pheochromocytoma and paraganglioma should have routine preoperative genetic testing for common susceptibility genes in addition to imaging to detect extra-adrenal and metastatic tumors.
abstract: Pediatric pheochromocytomas and paragangliomas are rare with limited data on the optimal management approach. 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 pheochromocytomas and paragangliomas.
  
  
  
  We performed a retrospective study of 55 patients diagnosed at ≤21 years of age with pheochromocytomas and paragangliomas with analysis of data on genetic testing and multimodal imaging.
  
  
  
  Eighty percent of patients (n = 44/55) had a germline mutation. The majority were found to have either VHL (38%) or SDHB (25%) mutation. Pheochromocytoma was present in 67% (n = 37/55) of patients and was bilateral in 51% (n = 19/37). The majority of patients with bilateral pheochromocytomas had VHL (79%). Abdominal paragangliomas was present in 22% (n = 12/55), head and neck paragangliomas in 11% (n = 6/55), and thoracic paragangliomas in 2 of 55 patients. For paragangliomas, SDHx accounted for 72% (n = 13/18) of mutations. The rate of malignancy was 16% (n = 9/55), 56% of whom had SDHB mutations. In two-thirds of patients, functional imaging identified either extra-adrenal paragangliomas and/or metastatic disease.
  
  
  
  The majority of pediatric patients with pheochromocytomas and paragangliomas have detectable germline mutations. Therefore, we suggest strongly that all pediatric patients with pheochromocytomas and paragangliomas undergo genetic testing and imaging to detect extra-adrenal paragangliomas and metastatic disease to guide treatment and follow-up.
authors.affiliation: Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Bruna
authors.initials: B
authors.lastname: Babic
authors.affiliation: Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Dhaval
authors.initials: D
authors.lastname: Patel
authors.affiliation: Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Rachel
authors.initials: R
authors.lastname: Aufforth
authors.affiliation: Department of Surgery, George Washington University Hospital, Washington, DC.
authors.forename: Yasmine
authors.initials: Y
authors.lastname: Assadipour
authors.affiliation: Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; Thoracic and Endocrine Surgery, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: Samira M
authors.initials: SM
authors.lastname: Sadowski
authors.affiliation: Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Martha
authors.initials: M
authors.lastname: Quezado
authors.affiliation: Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Naris
authors.initials: N
authors.lastname: Nilubol
authors.affiliation: Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health, Bethesda, MD.
authors.forename: Tamara
authors.initials: T
authors.lastname: Prodanov
authors.affiliation: Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health, Bethesda, MD.
authors.forename: Karel
authors.initials: K
authors.lastname: Pacak
authors.affiliation: Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD. Electronic address: kebebewe@mail.nih.gov.
authors.forename: Electron
authors.initials: E
authors.lastname: Kebebew
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D015331:Cohort Studies; D003598:Cytoskeletal Proteins; D003955:Diagnostic Tests, Routine; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006258:Head and Neck Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D018832:Molecular Chaperones; D009362:Neoplasm Metastasis / Q000235:genetics; D010235:Paraganglioma / Q000000981:diagnostic imaging / Q000235:genetics*; D010236:Paraganglioma, Extra-Adrenal / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery; D010673:Pheochromocytoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D000072078:Positron Emission Tomography Computed Tomography / Q000379:methods; D011300:Preoperative Care / Q000379:methods; D012189:Retrospective Studies; D013385:Succinate Dehydrogenase / Q000235:genetics; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D018832:Molecular Chaperones; C108825:VBP1 protein, human; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase