Bruna Babic1, Dhaval Patel1, Rachel Aufforth1, Yasmine Assadipour2, Samira M Sadowski3, Martha Quezado4, Naris Nilubol1, Tamara Prodanov5, Karel Pacak5, Electron Kebebew6. 1. Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD. 2. Department of Surgery, George Washington University Hospital, Washington, DC. 3. Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; Thoracic and Endocrine Surgery, University Hospitals of Geneva, Geneva, Switzerland. 4. Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD. 5. Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health, Bethesda, MD. 6. Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD. Electronic address: kebebewe@mail.nih.gov.
Abstract
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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. Published by Elsevier Inc.
BACKGROUND: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. METHODS: 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. RESULTS: 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. CONCLUSION: 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. Published by Elsevier Inc.
Authors: Nelly Burnichon; Alberto Cascón; Francesca Schiavi; Nicole Paes Morales; Iñaki Comino-Méndez; Nasséra Abermil; Lucía Inglada-Pérez; Aguirre A de Cubas; Laurence Amar; Marta Barontini; Sandra Bernaldo de Quirós; Jérôme Bertherat; Yves-Jean Bignon; Marinus J Blok; Sara Bobisse; Salud Borrego; Maurizio Castellano; Philippe Chanson; María-Dolores Chiara; Eleonora P M Corssmit; Mara Giacchè; Ronald R de Krijger; Tonino Ercolino; Xavier Girerd; Encarna B Gómez-García; Alvaro Gómez-Graña; Isabelle Guilhem; Frederik J Hes; Emiliano Honrado; Esther Korpershoek; Jacques W M Lenders; Rocío Letón; Arjen R Mensenkamp; Anna Merlo; Luigi Mori; Arnaud Murat; Peggy Pierre; Pierre-François Plouin; Tamara Prodanov; Miguel Quesada-Charneco; Nan Qin; Elena Rapizzi; Victoria Raymond; Nicole Reisch; Giovanna Roncador; Macarena Ruiz-Ferrer; Frank Schillo; Alexander P A Stegmann; Carlos Suarez; Elisa Taschin; Henri J L M Timmers; Carli M J Tops; Miguel Urioste; Felix Beuschlein; Karel Pacak; Massimo Mannelli; Patricia L M Dahia; Giuseppe Opocher; Graeme Eisenhofer; Anne-Paule Gimenez-Roqueplo; Mercedes Robledo Journal: Clin Cancer Res Date: 2012-03-27 Impact factor: 12.531
Authors: George N Zografos; George K Vasiliadis; Flora Zagouri; Chrysanthi Aggeli; Dimitris Korkolis; Sophia Vogiaki; Matina K Pagoni; Gregory Kaltsas; George Piaditis Journal: World J Surg Oncol Date: 2010-03-10 Impact factor: 2.754
Authors: Alberto Cascón; Lucía Inglada-Pérez; Iñaki Comino-Méndez; Aguirre A de Cubas; Rocío Letón; Jaume Mora; Mónica Marazuela; Juan Carlos Galofré; Miguel Quesada-Charneco; Mercedes Robledo Journal: Endocr Relat Cancer Date: 2013-05-30 Impact factor: 5.678
Authors: Ahmad Saad Fathinul Fikri; A Kroiss; A Z F Ahmad; H Zanariah; W F E Lau; C Uprimny; E Donnemiller; D Kendler; A J Nordin; I J Virgolini Journal: Acta Radiol Date: 2013-09-14 Impact factor: 1.990
Authors: Abhishek Jha; Alexander Ling; Corina Millo; Garima Gupta; Bruna Viana; Frank I Lin; Peter Herscovitch; Karen T Adams; David Taïeb; Adam R Metwalli; W Marston Linehan; Alessandra Brofferio; Constantine A Stratakis; Electron Kebebew; Maya Lodish; Ali Cahid Civelek; Karel Pacak Journal: Eur J Nucl Med Mol Imaging Date: 2017-12-04 Impact factor: 9.236
Authors: Michael D Traynor; Alaa Sada; Geoffrey B Thompson; Christopher R Moir; Irina Bancos; David R Farley; Benzon M Dy; Melanie L Lyden; Elizabeth B Habermann; Travis J McKenzie Journal: Pediatr Surg Int Date: 2019-11-05 Impact factor: 1.827
Authors: Joseph M Pappachan; Nyo Nyo Tun; Ganesan Arunagirinathan; Ravinder Sodi; Fahmy W F Hanna Journal: Curr Hypertens Rep Date: 2018-01-22 Impact factor: 5.369
Authors: Martin K Walz; Laura D Iova; Judith Deimel; Hartmut P H Neumann; Birke Bausch; Stefan Zschiedrich; Harald Groeben; Pier F Alesina Journal: World J Surg Date: 2018-04 Impact factor: 3.352
Authors: Ivana Jochmanova; April Melody T Abcede; Ruby Jane S Guerrero; Chandy Lou P Malong; Robert Wesley; Thanh Huynh; Melissa K Gonzales; Katherine I Wolf; Abhishek Jha; Marianne Knue; Tamara Prodanov; Naris Nilubol; Leilani B Mercado-Asis; Constantine A Stratakis; Karel Pacak Journal: J Cancer Res Clin Oncol Date: 2020-02-15 Impact factor: 4.553
Authors: Jorge A Carrasquillo; Clara C Chen; Abhishek Jha; Alexander Ling; Frank I Lin; Daniel A Pryma; Karel Pacak Journal: J Nucl Med Date: 2021-08-01 Impact factor: 10.057