Surveillance for early detection of aggressive parathyroid disease:: Carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation

Familial hyperparathyroid syndromes involving mutations of HRPT2 (also CDC73), a tumor suppressor, are important to identify because the relatively high incidence of parathyroid malignancy associated with such mutations warrants a specific surveillance strategy. However, there is a dearth of reports describing experience with surveillance and early detection informed by genetic insight into this disorder.