Hereditary parathyroid disease: sometimes pathologists do not know what they are missing

John Turchini*, Anthony J. Gill

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

3 Citations (Scopus)

Abstract

Parathyroid gland excision specimens are common and sometimes underestimated cases that many surgical pathologists encounter regularly. In the vast majority of cases, these will be spot diagnoses of sporadic primary parathyroid adenomas or, perhaps, hyperplasias commonly in the setting of renal failure. However, a small but significant number of parathyroid gland excisions may be due to heritable disease. In most cases, hereditary disease is suspected by the referring clinicians. Nevertheless, a subset of these are undetected which is significant, particularly in the setting of the multiple endocrine neoplasia (MEN), and the hyperparathyroidism jaw tumour (HPT-JT) syndromes. There have been recent advances in recognition of the morphological and immunohistochemical characteristics of these tumours and hyperplasias. While hereditary kindreds are over-represented at specialist referral centres, with awareness of the characteristic clinical and morphological features, the general surgical pathologist is frequently able to suggest the possibility of hereditary parathyroid disease. We therefore provide a succinct guide for pathologists to increase the recognition of hereditary parathyroid disease.

Original languageEnglish
Pages (from-to)218-230
Number of pages13
JournalEndocrine Pathology
Volume31
Issue number3
DOIs
Publication statusPublished - 1 Sep 2020

Keywords

  • Adenoma
  • CDC73
  • FHH
  • Jaw tumours
  • MEN
  • Parathyroid

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