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5 slides generated from the cancer page, with a quiz from the open benchmark and speaker notes that cite the sources. Arrow keys move between slides; Print gives one slide per page.
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.
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.
How 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).
| Setting | Approach | Guideline |
|---|---|---|
| Hyperparathyroidism and carcinoma | Parathyroid surgery for hyperparathyroidism; carcinoma treated as the parent page describes, with cinacalcet for uncontrolled calcium and CDC73 testing of relatives. | not mapped |