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CASE REPORT
Previously unreported deletion of CDC73 involving exons 1–13 was detected in a patient with recurrent parathyroid carcinoma
  1. Geeti Mahajan1 and
  2. Alan Sacerdote2
  1. 1 Division of Endocrinology, Fortis Memorial Research Institute, Gurgaon, Haryana, India
  2. 2 Internal Medicine, Woodhull Medical Center, Brooklyn, New York, USA
  1. Correspondence to Dr Geeti Mahajan, mahajan.geeti{at}gmail.com

Abstract

Parathyroid carcinoma (PC) is a rare malignancy, presenting sporadically or as part of a genetic syndrome. Diagnosis of PC includes the histopathological diagnosis based on capsular, perineural, or vascular invasion or metastasis. High suspicion for malignancy includes hypercalcaemia greater than 14 mg/dL, extremely high serum parathyroid hormone (PTH) levels, as well as large masses. Given the rarity of PC, it is challenging to design clinical trials for newer therapy. Currently, complete initial surgical excision of the tumour in high-risk patients offers the best chance of cure and prolonged disease-free survival in PC. In the absence of definite data, non-surgical therapies such as radiation and chemotherapy are not routinely recommended. For early detection of recurrence; long-term clinical follow-up with interval measurements of serum calcium and PTH is recommended. Localising studies of PC are helpful. Early screening for CDC73 mutation and multidisciplinary treatment by an endocrine/ENT/surgical oncology team is recommended.

  • Endocrine Cancer
  • Calcium And Bone
  • Drugs: Endocrine System
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Footnotes

  • Contributors The patient has been diagnosed, managed and followed by GM with AS contributing via drafting the work and revising it critically for important intellectual content.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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