Hyperparathyroidism-jaw tumor

Studies of heritable tumor syndromes have provided considerable insight into the molecular basis of the corresponding sporadic tumors. Mutations of the HRPT2 gene are responsible for the development of the hyperparathyroidism-jaw tumor (HPT-JT) syndrome, which is inherited as an autosomal dominant trait. The commonest manifestations of this syndrome include primary hyperparathyroidism, fibro-osseous lesions of the mandible and maxilla, and a variety of renal lesions. In this syndrome, hyperparathyroidism occurs as a result of neoplasms of one or more parathyroid glands, which... 

Carpten JD, Robbins CM, Villablanca A, et al. HRPT2 encoding parafibromin is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet. 2002 32 676-680. 

Teh BT, Sweet KM, Morrison CD. Hyperparathyroidism-jaw tumor syndrome. In DeLellis RA, Lloyd RV, Heitz PN, Eng C (eds). Pathology and Genetics of Tumours of Endocrine Organs (WHO Classification). Lyon, France lARC Press 2004 228-229. 

Til. Gill AJ, Clarkson A, Gimm O, et al. Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor associated adenomas from sporadic parathyroid adenomas and hyperplasias. Am Surg Pathol. 2006 30 1140-1149. 

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