Recurrent Hyperparathyroidism and a Novel Nonsense Mutation in a Patient with Hyperparathyriodism-Jaw Tumor Syndrome |
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| Institution: | 1. Section of Endocrine Surgery, UCLA David Geffen School of Medicine, Los Angeles, California.;2. Department of Pathology and Laboratory Medicine, UCLA David Geffen School of Medicine, Los Angeles, California.;1. Department of Surgery, Jersey Shore University Medical Center, Neptune, New Jersey;2. Department of Pathology, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania;3. Department of Pathology, Jersey Shore University Medical Center, Neptune, New Jersey;4. Department of Endocrinology, Jersey Shore University Medical Center, Neptune, New Jersey;5. Shore Endocrinology Associates, Pt. Pleasant, New Jersey;6. Southern Ocean Medical Center, Manahawkin, New Jersey;7. Atlantic Hematology Oncology, Manasquan, New Jersey;8. Hereditary Cancer Risk Program, Meridian Health System, Neptune, New Jersey.;1. Department of Endocrinology, Diabetes and Metabolism;2. Department of Hospital Medicine and Medical Genetics;3. Department of Rheumatology, Mayo Clinic;1. UAB School of Medicine, University of Alabama at Birmingham;2. Center for Clinical and Translational Sciences, University of Alabama at Birmingham;3. Department of Pediatrics/Division of Pediatric Endocrinology and Metabolism, Children’s of Alabama, University of Alabama at Birmingham, Birmingham, Alabama.;1. Department of Endocrinology and Metabolism, Loyola University Medical Center, Maywood, Illinois.;2. Stritch School of Medicine, Loyola University Chicago;3. Department of Public Health Sciences, Loyola University Stritch School of Medicine, Maywood, Illinois.;1. Department of Internal Medicine, Scottsdale, Arizona;2. Division of Endocrinology Mayo Clinic, Scottsdale, Arizona;1. School of Medicine and Health Sciences, George Washington University, Washington DC;2. Center for Andrology and Division of Endocrinology, George Washington University, Washington DC. |
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| Abstract: | ObjectiveTo present the case of a hyperparathyroidism-jaw tumor (HPT-JT) patient with a novel nonsense mutation of the CDC73 gene.MethodsWe present the case of a patient with a history of three prior maxillectomies and two prior parathyroidectomies who presented with recurrent primary hyperparathyroidism (PHPT). We also briefly review the literature pertaining to HPT-JT.ResultsGenetic analysis revealed a novel nonsense mutation (c.85G>T; pGlu29) in exon 1 of CDC73. The patient’s son underwent genetic testing for a CDC73 mutation and was found to be negative.ConclusionHPT-JT is a rare condition characterized by PHPT and benign tumors of the mandible and maxilla. Up to 15% of HPT-JT patients with PHPT have parathyroid carcinoma. HPT-JT is associated with an inactivating mutation of CDC73, a gene that codes for the tumor suppressor protein parafibromin. This report expands our understanding of the genetics underlying this rare disorder and emphasizes the importance of early detection in order to prevent hypercalcemic complications such as parathyroid carcinoma. (Endocr. Pract. 2013;19:e134-e137) |
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