{"entity":{"id":"hyperparathyroidism-jaw-tumour-syndrome","kind":"cancer","name":"Hyperparathyroidism-jaw tumour syndrome (CDC73-related parathyroid carcinoma)","aka":["HPT-JT","HPT-JT syndrome","Hyperparathyroidism-jaw tumour syndrome associated (germline CDC73)","CDC73-related disorder","HRPT2-related hyperparathyroidism"],"tldr":"Hyperparathyroidism-jaw tumour syndrome is an inherited condition in which a faulty CDC73 gene causes parathyroid tumours, and in about one in five people a parathyroid carcinoma, together with bony tumours of the jaw and kidney and womb growths. It matters because it is the commonest inherited route to parathyroid carcinoma and a reason to test the gene in anyone with that cancer.","summary":"The syndrome is autosomal dominant and is caused by germline inactivating mutations of CDC73 (formerly HRPT2), which encodes parafibromin; the gene was identified in 2002 by finding 13 different heterozygous germline mutations in 14 affected families, and somatic mutations in the same gene were then found in most sporadic parathyroid carcinomas (Carpten 2002). Primary hyperparathyroidism is the main finding, usually from a single parathyroid gland (80 percent of cases), unlike the multigland disease of MEN1; fibro-osseous (ossifying fibroma) tumours of the mandible or maxilla, renal cysts, hamartomas or Wilms tumour, and uterine tumours complete the picture (Torresan 2019). Loss of nuclear parafibromin on immunohistochemistry distinguishes parathyroid carcinomas and HPT-JT adenomas from sporadic adenomas (Gill 2006). The WHO endocrine classification lists the syndrome among the genetic tumour syndromes.\n\nHow it differs from its parent: the parent page covers parathyroid carcinoma of any cause, most of it sporadic; this page is the inherited setting in which the cancer arises early and can recur in other glands, so surgery, surveillance and family testing are planned differently. About 15 to 20 percent of people with the syndrome develop parathyroid carcinoma against about 1 percent of all hyperparathyroidism (Kelly 2015; Torresan 2019).\n\nTreatment: surgery is the treatment of choice for the hyperparathyroidism, and the extent, from focused removal of the affected gland to bilateral neck exploration, is debated because further glands can be affected later (Torresan 2019). Carcinoma is treated as on the parent page, with en bloc resection and cinacalcet for uncontrolled calcium; there is no drug trial in this syndrome. Carriers need lifelong calcium and parathyroid hormone monitoring, jaw and renal imaging, and their relatives should be offered CDC73 testing (Torresan 2019).","asOf":"2026-09-24","wikipedia":"https://en.wikipedia.org/wiki/Hyperparathyroidism-jaw_tumor_syndrome","links":[{"label":"NCI PDQ: parathyroid cancer treatment","url":"https://www.cancer.gov/types/parathyroid/patient/parathyroid-treatment-pdq"},{"label":"Orphanet: hyperparathyroidism-jaw tumour syndrome (ORPHA:99880)","url":"https://www.orpha.net/en/disease/detail/99880"},{"label":"Carpten 2002, Nature Genetics: HRPT2 (CDC73), encoding parafibromin, is mutated in HPT-JT","url":"https://doi.org/10.1038/ng1048"},{"label":"Torresan 2019, Int J Endocrinol: clinical features, treatment and surveillance of HPT-JT (review)","url":"https://doi.org/10.1155/2019/1761030"},{"label":"Gill 2006, Am J Surg Pathol: loss of parafibromin distinguishes parathyroid carcinoma and HPT-JT adenomas","url":"https://doi.org/10.1097/01.pas.0000209827.39477.4f"},{"label":"Kelly 2015, J Oral Maxillofac Surg: HPT-JT case report and genetic review","url":"https://doi.org/10.1016/j.joms.2014.09.008"}],"tags":["subtype-page","wave4","rare"],"related":["parathyroid-carcinoma","men1-syndrome","wilms-tumor","multiple-endocrine-neoplasia"],"cancers":[],"sections":[],"technologies":["germline-testing"],"targets":["cdc73"],"drugs":["cinacalcet"],"companies":[],"institutions":[],"pathways":[],"terms":["hereditary-cancer-syndromes"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"group":"endocrine","burden":"Orphanet lists it as a rare disease (ORPHA:99880); about 100 cases had been published by 2015 and the true incidence is unknown (Kelly 2015). Parathyroid carcinoma develops in about 15 to 20 percent of affected people (Kelly 2015; Torresan 2019).","subtypes":["HPT-JT with parathyroid adenoma or atypical parathyroid tumour","HPT-JT with parathyroid carcinoma (about 15 to 20 percent of carriers)","CDC73-related familial isolated hyperparathyroidism"],"biomarkers":["Germline CDC73 mutation","Loss of nuclear parafibromin on immunohistochemistry","Calcium and parathyroid hormone","Jaw and renal imaging"],"standardOfCare":[{"setting":"Hyperparathyroidism and carcinoma","approach":"Parathyroid surgery for hyperparathyroidism; carcinoma treated as the parent page describes, with cinacalcet for uncontrolled calcium and CDC73 testing of relatives.","refs":["parathyroid-carcinoma","cinacalcet","germline-testing"]}],"stateOfArt":[],"history":[],"pipeline":[],"openProblems":[],"parent":"parathyroid-carcinoma"},"route":"/cancers/hyperparathyroidism-jaw-tumour-syndrome/","neighbours":{"cancer":[{"id":"mediastinal-germ-cell-tumour","kind":"cancer","name":"Mediastinal germ cell tumour","route":"/cancers/mediastinal-germ-cell-tumour/"},{"id":"multiple-endocrine-neoplasia","kind":"cancer","name":"Multiple endocrine neoplasia syndromes (MEN1, MEN2, MEN4)","route":"/cancers/multiple-endocrine-neoplasia/"},{"id":"men1-syndrome","kind":"cancer","name":"Multiple endocrine neoplasia type 1 (MEN1)","route":"/cancers/men1-syndrome/"},{"id":"parathyroid-carcinoma","kind":"cancer","name":"Parathyroid carcinoma","route":"/cancers/parathyroid-carcinoma/"},{"id":"wilms-tumor","kind":"cancer","name":"Wilms tumour (nephroblastoma)","route":"/cancers/wilms-tumor/"}],"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"target":[{"id":"cdc73","kind":"target","name":"CDC73","route":"/targets/cdc73/"}],"drug":[{"id":"cinacalcet","kind":"drug","name":"Cinacalcet","route":"/drugs/cinacalcet/"}],"term":[{"id":"hereditary-cancer-syndromes","kind":"term","name":"Hereditary cancer syndromes","route":"/terms/hereditary-cancer-syndromes/"}]}}