Necessity for Long-Term Follow-Up of Patients With Head and Neck Paraganglioma and Mutation in the Succinate Dehydrogenase Genes: An Index Case Report and Literature Review |
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| Institution: | 1. Department of Nuclear Medicine;2. Department of Medicine, Brighton and Sussex University Hospitals NHS Trust, Brighton, United Kingdom;;3. Division of Specialist Medicine,;4. Department of Endocrinology,;5. Division of Critical Care and Surgery, King’s College Hospital NHS Foundation Trust, London, United Kingdom.;1. Department of Surgery, Duke University Medical Center, Durham, NC;2. Duke University, Department of Biostatistics and Bioinformatics, Durham, NC;1. Department of Surgical Oncology, University of Texas M. D. Anderson Cancer Center, Houston, Texas;2. Department of Translational Molecular Pathology, University of Texas M. D. Anderson Cancer Center, Houston, Texas;3. Department of Pathology, University of Texas M. D. Anderson Cancer Center, Houston, Texas;4. Department of Biostatistics, University of Texas M. D. Anderson Cancer Center, Houston, Texas;5. Division of Surgical Oncology, Medical College of Wisconsin, Milwaukee, Wisconsin;6. Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas M. D. Anderson Cancer Center, Houston, Texas;1. Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA;2. NRG Oncology Statistics and Data Management Center, Buffalo, NY 14263, USA;3. Cancer Therapy Evaluation Program, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA;4. Abington Hospital, Jefferson Health, Abington, PA 19001, USA;5. University of Mississippi Medical Center, Jackson, MS 39216, USA;6. Ohio State University, Wexner Medical Center, Hilliard, OH 43026, USA;7. Gynecologic Oncology, The University of Chicago Medicine & Biological Sciences, Chicago, IL 60637, USA;8. Women & Infants Hospital, Providence, RI 02905, USA;9. Hospital of Central Connecticut, New Britain, CT 06050, USA;10. Weill Cornell Medical College, New York, NY 10065, USA |
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| Abstract: | ObjectiveTo describe a patient with hereditary head and neck paraganglioma (HNPGL) and to review the literature on these rare tumors.MethodsWe review the English-language literature regarding SDH mutations, HNPGL, hereditary paraganglioma-pheochromocytoma syndrome, and the role of functional imaging in the follow-up of these tumors. We also describe the clinical findings, imaging results, and follow-up of a man who initially presented with HNPGL and subsequently developed metastatic pheochromocytoma 20 years later.ResultsA 66-year-old man presented with a history of hypertension, palpitations, sweating, and elevated urinary norepinephrine. Iodine-123-metaiodobenzylguanidine (123I-MIBG) scan demonstrated a left suprarenal mass and multiple avid lesions in the abdomen, chest, and posterior cranial fossa. Histologic examination confirmed aSubmitted for publication February 25, 2012 Accepted for publication May 14, 2012To purchase reprints of this article, please visit: www.aace.com/reprints. Copyright © 2012 AACE.metastatic pheochromocytoma, and molecular genetic testing revealed a mutation in the SDHD gene. The patient had had surgery 20 years earlier for HNPGL. Although most HNPGLs arise sporadically, susceptibility genes have been identified in approximately one-third of cases. Optimal follow-up remains controversial. We reiterate a need for longterm follow-up of patients with a mutation in an SDH gene. 123I-MIBG, highly specific for identifying ectopic neuroendocrine tissue, may have a role in long-term follow-up.ConclusionsAlthough HNPGLs rarely metastasize, their malignant potential is difficult to predict. Routine surveillance for at-risk patients is recommended. Patients with a mutation in an SDH gene should therefore undergo regular surveillance. (Endocr Pract. 2012;18:e130-e134) |
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