title: 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.
abstract: 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.
authors.forename: Monica
authors.initials: M
authors.lastname: Serrano-Gonzalez
authors.forename: Sophie
authors.initials: S
authors.lastname: Shay
authors.forename: Juliana
authors.initials: J
authors.lastname: Austin
authors.forename: Dennis R
authors.initials: DR
authors.lastname: Maceri
authors.forename: Pisit
authors.initials: P
authors.lastname: Pitukcheewanont
mesh_terms: D000293:Adolescent; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D010281:Parathyroid Hormone / Q000097:blood; D010282:Parathyroid Neoplasms / Q000097:blood / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C454900:CDC73 protein, human; D010281:Parathyroid Hormone; D025521:Tumor Suppressor Proteins