A germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature. J Pediatr Endocrinol Metab 2016 Sep 01;29(9):1005-12
Date
08/22/2016Pubmed ID
27544721DOI
10.1515/jpem-2016-0109Scopus ID
2-s2.0-84989345465 (requires institutional sign-in at Scopus site) 20 CitationsAbstract
Parathyroid carcinoma is a rare cause of primary hyperparathyroidism amongst children, with only nine previously reported cases. The objective of the study was to present the first pediatric case with a germline CDC73 (formerly known as HRPT2) mutation, and to review the literature. A 14-year-old girl presented with pathologic slipped capital femoral epiphysis (SCFE). The patient was noted to have an elevated calcium level of 3.4 mmol/L (13.4 mg/dL), a parathyroid hormone (PTH) level of 1013 ng/L (1013 pg/mL), and a 3-cm palpable neck mass. Ultrasound and 99mTc-Sestamibi confirmed the suspicion of a parathyroid mass. Intraoperative findings and pathology confirmed the diagnosis of parathyroid carcinoma. Post-operative PTH decreased to 14 ng/L (14 pg/mL). Genetic testing showed a germline 70 G>T HRPT2/CDC73 mutation. This is the first case documenting a germline 70 G>T HRPT2/CDC73 gene mutation in a pediatric parathyroid carcinoma. Patients with sporadic parathyroid carcinoma may benefit from HRPT2/CDC73 gene mutation screening.
Author List
Serrano-Gonzalez M, Shay S, Austin J, Maceri DR, Pitukcheewanont PAuthor
Sophie G. Shay MD Associate Professor in the Otolaryngology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentFemale
Germ-Line Mutation
Humans
Parathyroid Hormone
Parathyroid Neoplasms
Prognosis
Tumor Suppressor Proteins
