A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome

Front Endocrinol (Lausanne). 2024 Jan 29:15:1330185. doi: 10.3389/fendo.2024.1330185. eCollection 2024.

Abstract

Background: Hereditary primary hyperparathyroidism (PHPT) accounts for 5-10% of all PHPT cases, necessitating genetic testing for diagnosis and management. Among these, hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disorder caused by CDC73 mutations with variable clinical presentations and incomplete symptoms.

Case summary: The proband, diagnosed with PHPT, underwent parathyroidectomy at the age of 41 with pathological examination of parathyroid carcinoma (PC). Hereditary PHPT was initially suspected due to the early-onset PHPT and family history. Genetic testing identified a heterozygous CDC73 mutation, NM_024529.4: c. 687_688delAG (p. Arg229Serfs*37). Even in the absence of jaw tumors, the diagnosis of HPT-JT was confirmed based on the discovery of renal cysts. A secondary thyroidectomy was performed to reduce the risk of recurrence.

Conclusion: Genetic testing is strongly recommended in cases of early-onset PHPT, family history, jaw tumors, renal and uterine involvement, atypical parathyroid tumors, and PC. This testing provides valuable information for personalized management, and counseling is available for affected families.

Keywords: CDC73 gene; hereditary primary hyperparathyroidism; hyperparathyroidism-jaw tumor syndrome; parafibromin; parathyroid carcinoma.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenoma*
  • Adult
  • Fibroma*
  • Humans
  • Hyperparathyroidism* / complications
  • Hyperparathyroidism* / genetics
  • Hyperparathyroidism* / surgery
  • Jaw Neoplasms* / complications
  • Jaw Neoplasms* / genetics
  • Jaw Neoplasms* / surgery
  • Mutation
  • Parathyroid Neoplasms* / complications
  • Parathyroid Neoplasms* / genetics
  • Parathyroid Neoplasms* / surgery
  • Tumor Suppressor Proteins / genetics

Substances

  • CDC73 protein, human
  • Tumor Suppressor Proteins

Supplementary concepts

  • Hyperparathyroidism 2

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was supported by Tianjin Key Medical Discipline (Specialty) Construction Project (grant number TJYXZDXK-030A), Major project of Tianjin Municipal Science and Technology Bureau (grant number 21ZXJBSY00060).