Hyperparathyroidism-jaw tumor syndrome: a case report
10.3760/cma.j.cn115807-20250421-00112
- VernacularTitle:Hyperparathyroidism-jaw tumor syndrome：a case report
- Author:
Lanning JIA
1
;
Ruoyu JIANG
1
;
Xiaoning WANG
1
;
Ke ZHAO
1
;
Fuxin LI
1
;
Yizeng WANG
1
;
Xianghui HE
1
Author Information
1. Department of General Surgery, Tianjin Medical University General Hospital, Tianjin 300052, China
- Publication Type:Journal Article
- Keywords:
Hyperparathyroidism-jaw tumor syndrome;
CDC73;
Primary hyperparathyroidism
- From:
Chinese Journal of Endocrine Surgery
2025;19(5):787-789
- CountryChina
- Language:English
-
Abstract:
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare familial autosomal dominant genetic disease with primary hyperparathyroidism, jaw tumors, kidney tumors and uterine tumors caused by cell division cycle 73 (CDC73) germline mutations. A 42-year-old male patient was admitted for pancreatitis and further examination revealed elevated PTH at 54.00pmol/L and a history of jaw tumors. This patient was diagnosed as HPT-JT finally and underwent upper right, lower right, and upper left parathyroid glands resection and genetic testing. Postoperative pathology revealed that atypical adenomatous nodules of parathyroid glands with extensive atypia and nucleus division and parathyroid hyperplasia and whole exome sequencing suggested that the CDC73 mutation.
