Parathyroid carcinoma (PC) is a highly aggressive endocrine tumor, with an annual incidence of less than 1 per million. Over 90% of patients present with excess parathyroid hormone (PTH), representing <1-5% of all patients with primary hyperparathyroidism. PC is associated with mutations in the HRPT2/CDC73 gene and with decreased parafibromin and calcium-sensing receptor (CASR) expression. Negative parafibromin staining together with a CDC73 gene mutation increases the likelihood of malignancy and also predicts the clinical outcome, namely local invasion and/or metastases and mortality. An increased mortality is predicted by either of these abnormality combined with down regulation of the calcium-sensing receptor (CaSR) expression.
Category
Cancer
Brite
Human diseases [BR:br08402]
Cancers
Cancers of endocrine organs
H01558 Parathyroid carcinoma
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
In situ neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
2E6B Carcinoma in situ of thyroid and other endocrine glands
H01558 Parathyroid carcinoma
Related pathway
hsa04928
Parathyroid hormone synthesis, secretion and action