Related Experiment Video
Updated: Apr 20, 2026
Lateral Molar Approach-Driven Transoral Endoscopic Procedure for Benign Infratemporal Fossa Tumor Resection
Published on: August 15, 2025
Hyperparathyroidism-jaw tumor syndrome: Results of operative management
Amit Mehta1, Dhaval Patel2, Avi Rosenberg3
1Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; Geisel School of Medicine at Dartmouth, Hanover, NH.
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.
Insights
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) management requires careful surgical planning. Bilateral neck exploration and en bloc resection are recommended for parathyroid tumors suspicious for cancer, with lifelong follow-up.
Area of Science:
- Endocrinology
- Genetics
- Surgical Oncology
Background:
- Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare autosomal-dominant disorder caused by HRPT2/CDC73 gene mutations.
- It is associated with primary hyperparathyroidism (PHPT) and an increased risk of parathyroid carcinoma.
Purpose of the Study:
- To determine the optimal surgical strategy for managing parathyroid disease in HPT-JT patients.
- To evaluate operative outcomes and long-term disease control in this cohort.
Main Methods:
- Retrospective analysis of 7 unrelated HPT-JT families.
- Review of clinical, genetic, and surgical data, including operative outcomes and disease progression.
Main Results:
- Five distinct germline HRPT2/CDC73 mutations were identified across 7 families.
- Sixteen patients with PHPT underwent bilateral neck exploration; 31% had multiglandular disease.
- 37.5% developed parathyroid carcinoma, with a median survival of 8.9 years; 20% experienced recurrent PHPT.
Conclusions:
- Bilateral neck exploration is recommended for HPT-JT patients due to high malignancy risk.
- En bloc resection of suspicious parathyroid tumors and lifelong postoperative follow-up are crucial.
- Early diagnosis and comprehensive management are essential for improved patient outcomes.
More Related Videos
Related Concept Videos
00:59The Parathyroid Glands
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...
01:25Urinary Tract Calculi VI: Surgical Management
01:19Cushing Syndrome II: Pathophysiology
01:25Peptic Ulcer Disease V: Surgical Management and Nursing Care
Surgical Interventions for Peptic Ulcer Disease
01:26Cushing Syndrome I: Introduction
01:21Barrett Esophagus-II: Clinical Manifestations and Management
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure...