Primary hyperparathyroidism (HPT), a common endocrine disorder that can cause significant morbidity, may be due to benign neoplasia of a single parathyroid gland (adenoma) or multiple parathyroid glands (hyperplasia), and rarely, to malignant neoplasia of a parathyroid gland (carcinoma). The etiology of parathyroid neoplasia has not been defined. As with other forms of neoplasia, parathyroid tumors are presumably due to inherited (germ-line mutation) and/or acquired (somatic mutation) defects in specific genes. Etiologic genetic defects could include inappropriate expression of transforming "oncogenes" and/or loss of expression of tumor "suppressor" genes. The availability of surgically resected parathyroid tumors from patients with sporadic and hereditary forms of disease allows us to search for tumor-specific genetic abnormalities that may be involved in development of parathyroid neoplasia.
- National Institute of Diabetes and Digestive and Kidney Diseases
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