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Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations

  • Maurizio IacoboneEmail author
  • Valentina Camozzi
  • Caterina Mian
  • Gianmaria Pennelli
  • Costantino Pagetta
  • Eric Casal Ide
  • Giulia Masi
  • Stefania Zovato
  • Francesca Torresan
Original Scientific Report
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Abstract

Background

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare disease caused by CDC73 germline mutations, with familial primary hyperparathyroidism (pHPT), ossifying jaw tumors, genito-urinary neoplasms. The present study was aimed at determining the long-term postoperative outcome of parathyroidectomy in HPT-JT.

Methods

A retrospective analysis of a single-center series of 20 patients from five unrelated HPT-JT families undergoing parathyroid surgery was performed.

Results

Pathology confirmed a single-gland involvement in 95% of cases at onset. Parathyroid carcinoma occurred in three patients undergoing en-bloc parathyroidectomy and thyroid lobectomy: parathyroid benign lesions in 17 patients undergoing subtotal parathyroidectomy for evident multiglandular involvement (n = 1) or selective parathyroidectomy for single-gland involvement (n = 16), during bilateral (n = 13) or targeted unilateral neck exploration (n = 7). At a median overall follow-up of 16 years (range 2.5–42), patients with parathyroid carcinoma had a persistent/recurrent disease in 66.6%; patients with benign lesions had recurrent pHPT in 23.5% after a prolonged disease-free period; recurrent benign pHPT occurred slightly more often in cases of discordant preoperative localization (60% vs 9%; p = 0.06).

Conclusion

pHPT in HPT-JT is generally characterized by a benign and single-gland involvement, with a relatively increased risk of malignancy (15%). Parathyroid carcinoma needs extensive surgery because of high risk of permanent/recurrent disease (66.6%). In benign involvement, targeted unilateral exploration with selective parathyroidectomy may be effective in cases of concordant single-gland localization at preoperative localization imaging techniques. Bilateral neck exploration with subtotal parathyroidectomy might be preferred in cases of negative or discordant preoperative localization, because of the increased risk of multiglandular involvement and long-term recurrences (23.5%).

Notes

Funding

The study was supported by a Grant from University of Padua to Maurizio Iacobone (BIRD172205).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

The study has been approved by the Institution review board.

Informed consent

Informed consent was obtained from all individual participants included in the study.

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Copyright information

© Société Internationale de Chirurgie 2019

Authors and Affiliations

  • Maurizio Iacobone
    • 1
    Email author
  • Valentina Camozzi
    • 2
  • Caterina Mian
    • 2
  • Gianmaria Pennelli
    • 3
  • Costantino Pagetta
    • 1
  • Eric Casal Ide
    • 1
  • Giulia Masi
    • 4
  • Stefania Zovato
    • 5
  • Francesca Torresan
    • 1
  1. 1.Endocrine Surgery Unit, Department of Surgery, Oncology and GastroenterologyUniversity of PaduaPaduaItaly
  2. 2.Endocrinogy Unit, Department of MedicineUniversity of PaduaPaduaItaly
  3. 3.Pathology Unit, Department of MedicineUniversity of PaduaPaduaItaly
  4. 4.Department of Molecular MedicineUniversity of PaduaPaduaItaly
  5. 5.Familial Tumor UnitVeneto Institute of Oncology, (IOV)-IRCCSPaduaItaly

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