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Familial parathyroid tumours—comparison of clinical profiles between syndromes

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Abstract

Introduction

Primary hyperparathyroidism (PHPT) caused by parathyroid tumours is mostly sporadic, with a genetic cause identified in 5–10% of cases. Familial parathyroid tumours can be included in complex syndromes, such as multiple endocrine neoplasia (MEN) type 1, 2A and 4 or hyperparathyroidism-jaw tumour syndrome (HPT-JT).

Objective

Characterisation of the familial parathyroid tumours followed-up at our centre and comparison of the different clinicopathological manifestations between the syndromes.

Methods

Retrospective analysis of 48 patients with familial parathyroid tumours harbouring RET (n = 11), CDC73 (n = 20) and MEN1 (n = 17) germline mutations was performed.

Results

Cases of PHPT in MEN2A syndrome presented with lower serum PTH (sPTH) and serum calcium (sCa) levels at diagnosis (sPTH = 108.0 (IQR 53.3) pg/mL, sCa = 10.6 ± 1.1 mg/dL) than MEN1 (sPTH = 196.9 (IQR 210.5) pg/mL, sCa = 11.7 ± 1.2 mg/dL) (p = 0.01, p = 0.03, respectively) or HPT-JT cases (sPTH = 383.5 (IQR 775.8) pg/mL, sCa = 12.9 ± 1.8 mg/dL) (p = 0.01; p < 0.001, respectively). There was a statistical difference in sCa levels between MEN1 and HPT-JT (p = 0.02), but not between sPTH (p = 0.07). The predominant first manifestation of the syndrome in MEN1 was gastroenteropancreatic neuroendocrine tumour (GEP-NET) in 47.1% of the cases, in MEN2A was medullary thyroid cancer (90.9%) and in HPT-JT was PHPT in 85% patients. In MEN1 syndrome, the number of affected parathyroid glands was significantly higher than in MEN2A (p < 0.001) and HPT-JT (p = 0.01).

Conclusion

The first manifestation of the syndrome in MEN1 cases was GEP-NET and not PHPT. Although presenting at similar ages, patients with MEN2A exhibit less severe biochemical and clinical PHPT at diagnosis than the other familial syndromes.

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Data availability statement

The data that support the findings of this study are available from the corresponding author upon reasonable request.

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Funding

This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

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Authors and Affiliations

  1. Serviço de Endocrinologia, Instituto Português de Oncologia de Lisboa Francisco Gentil, Rua Professor Lima Basto, 1099-023, Lisbon, Portugal

    A. A. Figueiredo, J. Simões-Pereira & V. Leite

  2. Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

    A. Saramago, B. M. Cavaco, J. Simões-Pereira & V. Leite

  3. Nova Medical School | Faculdade de Ciências Médicas, Lisbon, Portugal

    J. Simões-Pereira & V. Leite

Authors
  1. A. A. Figueiredo
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  2. A. Saramago
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  3. B. M. Cavaco
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  4. J. Simões-Pereira
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  5. V. Leite
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Correspondence to A. A. Figueiredo.

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This study was approved by the local Ethics Committee of Instituto Português de Oncologia de Lisboa Francisco Gentil.

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Figueiredo, A.A., Saramago, A., Cavaco, B.M. et al. Familial parathyroid tumours—comparison of clinical profiles between syndromes. J Endocrinol Invest 46, 1799–1806 (2023). https://doi.org/10.1007/s40618-023-02032-4

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  • DOI: https://doi.org/10.1007/s40618-023-02032-4

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