Hyperparathyroidism-Jaw Tumor Syndrome: A Case Diagnosed After the Removal of Multiple Ossifying Fibromas of the Jaws.

Abstract

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a hereditary neoplastic disorder caused by a pathogenic variant in the CDC73 tumor suppressor gene. It is characterized by increased values of PTH, ossifying fibromas of the jaws, and in some cases neoplasms of the kidneys/or the uterus. We present a case of a 65-year-old male who had several jaw tumors with secondary infection requiring treatment. Previous medical history included parathyroid adenomas with a long history of increased PTH and kidney tumor. This prompted genetic testing, which confirmed a heterozygous CDC73 pathogenic variant, establishing the diagnosis of HPT-JT. The jaw tumor was excised. The patient was referred to genetic counselling but declined.