Journal article

Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to SDHB Mutations

Kathryn S King, Tamara Prodanov, Vitaly Kantorovich, Tito Fojo, Jacqueline K Hewitt, Margaret Zacharin, Robert Wesley, Maya Lodish, Margarita Raygada, Anne-Paule Gimenez-Roqueplo, Shana McCormack, Graeme Eisenhofer, Dragana Milosevic, Electron Kebebew, Constantine A Stratakis, Karel Pacak

JOURNAL OF CLINICAL ONCOLOGY | AMER SOC CLINICAL ONCOLOGY | Published : 2011

Abstract

PURPOSE: To present data on the high rate of SDHB mutations in patients with metastatic pheochromocytoma/paraganglioma whose initial tumor presentation began in childhood or adolescence. PATIENTS AND METHODS: From 2000 to 2010, 263 patients with pheochromocytoma/paraganglioma were evaluated through the National Institutes of Health (NIH), Bethesda, MD. Of the 263 patients, 125 patients were found to have metastatic disease; of these 125 patients, 32 patients presented with a tumor before 20 years of age. An additional 17 patients presented with a tumor before 20 years of age but demonstrated no development of metastatic disease. Genetic testing for mutations in the VHL, MEN, and SDHB/C/D gen..

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Grants

Awarded by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT


Awarded by NATIONAL CANCER INSTITUTE


Awarded by NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES


Funding Acknowledgements

Supported in part by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health.