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Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation

Nature Clinical Practice Endocrinology & Metabolism volume 4, pages 111–115 (2008)Cite this article

Abstract

Background A 46-year-old man presented with headaches, paroxysmal palpitations, anxiety and hypertension. The patient had undergone surgery for a retroperitoneal tumor at the age of 31 years, when histological examination revealed an extra-adrenal pheochromocytoma. The patient's 68-year-old mother had a history of a carotid body tumor, which had been resected when she was 34 years old. She was diagnosed with a meningioma at 54 years of age and a jugular paraganglioma at 68 years of age.

Investigations A 24h urine catecholamine assay was performed. CT imaging of the abdomen and 123I-labeled metaiodobenzylguanidine scintigraphy revealed a right pheochromocytoma and left adrenal incidentaloma. An inherited neoplasia syndrome was suspected and molecular genetic analyses were performed.

Diagnosis Right adrenal pheochromocytoma and left adrenal nonfunctioning incidentaloma, as part of a familial pheochromocytoma-paraganglioma syndrome associated with a germline mutation in SDHC (gene encoding succinate dehydrogenase complex, subunit C, integral membrane protein, 15 kDa).

Management Predictive testing, with genetic counseling. Management included surgical resection of the existing pheochromocytoma. The patient continues to be monitored with MRI scans of the neck, thorax, abdomen and pelvis every 1–2 years and an annual 24h urine collection for the measurement of metanephrines and catecholamines.

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Figure 1: Abdominal CT scan of the patient.
Figure 2: Mutation analysis revealing the germline SDHC (succinate dehydrogenase complex, subunit C, integral membrane protein, 15 kDa) gene mutation.
Figure 3: Reverse-transcription polymerase chain reaction analysis revealing the mutant complementary DNA sequence (bottom half of the figure).
Figure 4: Contribution of susceptibility genes in hereditary pheochromocytoma (A) and head and neck paraganglioma (B).

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Acknowledgements

Supported, in part, by grants from the Deutsche Krebshilfe (70-3313-Ne 1 to HPH Neumann), Deutsche Forschungsgemeinschaft (NE 571/5-3 to HPH Neumann), European Union (LSHC-CT-2005-518200 to HPH Neumann and A Januszewicz) and NIH, Bethesda, MD, USA (R01HD39058-01 and R01HD39058-01S1 to C Eng). C Eng is a recipient of the Doris Duke Distinguished Clinical Scientist Award. A Januszewicz is also supported by grants of the Polish Ministry of Science and Higher Education.

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Author notes

  1. A Cascon and Z Erlic are scientists, and HPH Neumann is Head of the Section for Preventive Medicine, in the Department of Nephrology at the Albert-Ludwigs-University, Freiburg, Germany.

  2. A Cascon is also staff scientist of the Hereditary Endocrine Cancer Group, Madrid, Spain.

  3. J Ćwikła and M Furmanek are Senior Assistants at the Department of Radiology and Diagnostic Imaging at the Medical Center for Postgraduate Education, Warsaw.

  4. C Eng is Chairman and Director of the Genomic Medicine Institute at the Cleveland Clinic and Professor and Vice Chairman at the Department of Genetics, Case Western Reserve University, Cleveland, OH, USA.

Authors and Affiliations

  1. the Department of Hypertension at the Institute of Cardiology, M Pęczkowska, A Prejbisz and A Kubaszek are researchers in, and A Januszewicz is Head of, Warsaw, Poland.,

    Mariola Pęczkowska, Alberto Cascon, Aleksander Prejbisz, Agata Kubaszek, Jarosław B Ćwikła, Mariusz Furmanek, Zoran Erlic, Charis Eng, Andrzej Januszewicz & Hartmut PH Neumann

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  1. Mariola Pęczkowska
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  2. Alberto Cascon
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Corresponding author

Correspondence to Hartmut PH Neumann.

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Pęczkowska, M., Cascon, A., Prejbisz, A. et al. Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation. Nat Rev Endocrinol 4, 111–115 (2008). https://doi.org/10.1038/ncpendmet0726

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