Amit Mehta1, Dhaval Patel2, Avi Rosenberg3, Myriem Boufraqech2, Ryan J Ellis3, Naris Nilubol2, Martha M Quezado4, Stephen J Marx5, William F Simonds5, Electron Kebebew6. 1. Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; Geisel School of Medicine at Dartmouth, Hanover, NH. 2. Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD. 3. Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA. 4. Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD. 5. Metabolic Diseases Branch, National Institute of Digestive and Diabetes and Kidney Diseases, 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: Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor gene HRPT2/CDC73. The aim of the present study was to determine the optimal operative approach to parathyroid disease in patients with HPT-JT. METHODS: A retrospective analysis of clinical and genetic features, parathyroid operative outcomes, and disease outcomes in 7 unrelated HPT-JT families. RESULTS: Seven families had 5 distinct germline HRPT2/CDC73 mutations. Sixteen affected family members (median age, 30.7 years) were diagnosed with primary hyperparathyroidism (PHPT). Fifteen of the 16 patients underwent preoperative tumor localization studies and uncomplicated bilateral neck exploration at initial operation; all were in biochemical remission at most recent follow-up. Of these patients, 31% had multiglandular involvement; 37.5% of the patients developed parathyroid carcinoma (median overall survival, 8.9 years; median follow-up, 7.4 years). Long-term follow-up showed that 20% of patients had recurrent PHPT. CONCLUSION: Given the high risk of malignancy and multiglandular involvement in our cohort, we recommend bilateral neck exploration and en bloc resection of parathyroid tumors suspicious for cancer and life-long postoperative follow-up. Published by Elsevier Inc.
BACKGROUND:Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor gene HRPT2/CDC73. The aim of the present study was to determine the optimal operative approach to parathyroid disease in patients with HPT-JT. METHODS: A retrospective analysis of clinical and genetic features, parathyroid operative outcomes, and disease outcomes in 7 unrelated HPT-JT families. RESULTS: Seven families had 5 distinct germline HRPT2/CDC73 mutations. Sixteen affected family members (median age, 30.7 years) were diagnosed with primary hyperparathyroidism (PHPT). Fifteen of the 16 patients underwent preoperative tumor localization studies and uncomplicated bilateral neck exploration at initial operation; all were in biochemical remission at most recent follow-up. Of these patients, 31% had multiglandular involvement; 37.5% of the patients developed parathyroid carcinoma (median overall survival, 8.9 years; median follow-up, 7.4 years). Long-term follow-up showed that 20% of patients had recurrent PHPT. CONCLUSION: Given the high risk of malignancy and multiglandular involvement in our cohort, we recommend bilateral neck exploration and en bloc resection of parathyroid tumors suspicious for cancer and life-long postoperative follow-up. Published by Elsevier Inc.
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