Somatic and Germ-Line Mutations of the HRPT2 Gene in Sporadic Parathyroid Carcinoma

Because mutations in the parafibromin gene ( HRPT2 ) occur in a familial syndrome characterized by susceptibility to parathyroid carcinoma, such mutations were sought and found in patients with sporadic cases of parathyroid carcinoma. Moreover, germ-line mutations of HRPT2 were found in some patients with apparently sporadic parathyroid carcinoma. Germline mutations of HRPT2 in sporadic cases. Parathyroid carcinomas are an uncommon and often devastating cause of primary hyperparathyroidism. 1 , 2 These cancers characteristically result in more profound clinical manifestations of hyperparathyroidism than do parathyroid adenomas, the most frequent cause of primary hyperparathyroidism. If a parathyroid carcinoma spreads to distant sites, it can cause relentless hypercalcemia and severe metabolic complications that are notoriously difficult to control and often result in death. Affected patients may require repeated palliative surgical extirpation of metastatic nodules. 1 – 3 Early en bloc resection of the primary tumor is the only curative treatment. Because the histopathological features of parathyroid carcinoma and adenoma may overlap, a . . .