Hyperparathyroidism-jaw tumor syndrome is an extremely rare condition where a gene mutation results in hyperparathyroidism in association with both benign and malignant tumors, most notably, tumors in the mandible or maxilla 2.
Approximately 200 cases have been reported in the medical literature.
Onset most commonly is in early adulthood or late adolescence, with the condition characterized by hyperparathyroidism and tumors:
- 30-40% of individuals develop ossifying fibromas of the mandible or maxilla, presenting with facial disfigurement 2
- 20% of affected individuals present with kidney lesions including cysts (most common), Wilms tumor, and renal hamartomas 1,2
- female individuals with this syndrome usually have benign or malignant uterine tumors
Hyperparathyroidism-jaw tumor syndrome is usually caused by mutations in the CDC73 gene (also known as the HRPT2 tumor suppressor gene) 2. This gene is responsible for the creation of parafibromin which is a protein responsible for various gene transcriptions throughout the body as well as regulating cell growth and proliferation. Mutations often cause a parafibromin protein that is too short and non-functional 1. This anomaly is inherited in an autosomal dominant pattern 3.
- 1. Jackson MA, Rich TA, Hu MI, Perrier ND, Waguespack SG. CDC73-Related Disorders. (2015) GeneReviews. Pubmed
- 2. du Preez H, Adams A, Richards P, Whitley S. Hyperparathyroidism jaw tumour syndrome: a pictoral review. (2016) Insights into Imaging. 7 (6): 793. doi:10.1007/s13244-016-0519-0 - Pubmed
- 3. Szabó J, Heath B, Hill VM, Jackson CE, Zarbo RJ, Mallette LE, Chew SL, Besser GM, Thakker RV, Huff V. Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. (1995) American journal of human genetics. 56 (4): 944-50. Pubmed
- 4. Matthew R. Kutcher, Matthew H. Rigby, Martin Bullock, Jonathan Trites, S. Mark Taylor, Robert D. Hart. Hyperparathyroidism–jaw tumor syndrome. (2013) Head & Neck. 35 (6): E175. doi:10.1002/hed.22918 - Pubmed
- 5. Chen JD, Morrison C, Zhang C, Kahnoski K, Carpten JD, Teh BT. Hyperparathyroidism-jaw tumour syndrome. (2003) Journal of internal medicine. 253 (6): 634-42. Pubmed