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)g...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.展开更多
基金This work was partly supported by the National Natural Science Foundation of Jiangsu Province (No. BK2005028) and the NationalNatural Science Foundation of China (No. 30140007).
基金Scientific Research Project of Tianjin Education Commission(2020KJ153)。
文摘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.
