TY - JOUR
T1 - Hyperparathyroidism-jaw tumor syndrome
T2 - Results of operative management
AU - Mehta, Amit
AU - Patel, Dhaval
AU - Rosenberg, Avi
AU - Boufraqech, Myriem
AU - Ellis, Ryan J.
AU - Nilubol, Naris
AU - Quezado, Martha M.
AU - Marx, Stephen J.
AU - Simonds, William F.
AU - Kebebew, Electron
N1 - Publisher Copyright:
© 2014 Elsevier Inc.
PY - 2014
Y1 - 2014
N2 - Background. Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor geneHRPT2/CDC73.Theaimof the present study was to determine the optimal operative approach to parathyroid disease in patientswithHPT-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.
AB - Background. Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor geneHRPT2/CDC73.Theaimof the present study was to determine the optimal operative approach to parathyroid disease in patientswithHPT-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.
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U2 - 10.1016/j.surg.2014.08.004
DO - 10.1016/j.surg.2014.08.004
M3 - Article
C2 - 25444225
AN - SCOPUS:84922565987
SN - 0039-6060
VL - 156
SP - 1315
EP - 1325
JO - Surgery (United States)
JF - Surgery (United States)
IS - 6
ER -