HIGH RISK OF PARATHYROID CARCINOMA AND GENETIC SCREENING IN THE FIRST DIAGNOSED ROMANIAN FAMILY WITH HYPERPARATHYROIDISM-JAW TUMOR SYNDROME AND A GERMLINE MUTATION OF THE CDC73 GENE.

ABSTRACT:

Context

Hyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant cause of familial hyperparathyroidism associated with ossifying fibromas (OF) of the maxillofacial bones and increased risk of parathyroid carcinoma, caused by inactivating germline mutation of the cell division cycle 73 (CDC73) gene.

Objective

To report the first Romanian family with HPT-JT and genetic screening of CDC73 gene.

Subjects and methods

Mutational analysis of the CDC73 gene and genetic screening of the family of a proband with HPT-JT. Histological diagnosis of parathyroid tumors (WHO criteria) and immunohistochemistry (parafibromin) were performed.

Results

Three of the six screened family members had evidence of PHPT and surgically proven parathyroid tumours. Two o

SUBMITTER: Grigorie D 

PROVIDER: S-EPMC6992406 | biostudies-literature | 2019 Jul-Sep

REPOSITORIES: biostudies-literature