EJMCR |

Case Report

Volume: 5 | Issue: 12 | Published: Dec 16, 2021 | Pages: 341 - 344 | DOI: 10.24911/ejmcr/173-1629190180

A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation

Authors: Nuno Cordeiro Raposo , Nadia Mourinho Bala , Sonia Pratas , Cristina Valadas

Article Info

Authors

Nuno Cordeiro Raposo

Assistant Physician of Endocrinology, Department of Endocrinology, Hospital Beatriz Angelo, Loures, Portugal

Nadia Mourinho Bala

Resident of Endocrinology, Department of Endocrinology, Hospital Beatriz Angelo, Loures, Portugal

Sonia Pratas

Assistant Physician of Endocrinology, Department of Endocrinology, Hospital Beatriz Angelo, Loures, Portugal

Cristina Valadas

Assistant Physician of Endocrinology, Department of Endocrinology, Hospital Beatriz Angelo, Loures, Portugal

Publication History

Received: August 17, 2021

Revised: November 29, 2021

Accepted: November 29, 2021

Published: December 16, 2021

Abstract

Background: Parathyroid carcinoma (PC) is an uncommon cause of primary hyperparathyroidism (pHPT). Mutations of the cell division cycle protein 73 homolog (CDC73) gene are associated with both sporadic and familial pHPT and PC, including hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Case Presentation: A 38-year-old man presented with severe hypercalcemia and acute renal injury due to pHPT. He had a palpable left cervical mass of 50 mm, characterized by both ultrasound and 99mTc-sestamibi scintigraphy as an enlarged hyperfunctioning parathyroid gland. Histological diagnosis after parathyroidectomy was of PC. During follow-up, patient developed metastasis of the skin, mediastinal lymph-nodes, and lungs. Even after surgical excision of all detectable metastasis parathyroid hormone (PTH) remained elevated. Genetic analysis found a germline mutation (c.766_767delGT) of the CDC73 gene, which was not previously reported in PC. Conclusion: Germline CDC73 analysis may be considered in HPT-JT syndrome, familial isolated pHPT, PC, and young individuals with pHPT.

Keywords: Parathyroid carcinoma, hyperparathyroidism, CDC73 mutation, case report, green

Pubmed Style

Nuno Cordeiro Raposo, Nadia Mourinho Bala, Sonia Pratas, Cristina Valadas. A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation. EJMCR. 2021; 16 (December 2021): 341-344. doi:10.24911/ejmcr/173-1629190180

Web Style

Nuno Cordeiro Raposo, Nadia Mourinho Bala, Sonia Pratas, Cristina Valadas. A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation. https://ejmcr.com/articles/1129 [Access: December 25, 2024]. doi:10.24911/ejmcr/173-1629190180

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Nuno Cordeiro Raposo, Nadia Mourinho Bala, Sonia Pratas, Cristina Valadas. A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation. EJMCR. (2021), [cited December 25, 2024]; 16 (December 2021): 341-344. doi:10.24911/ejmcr/173-1629190180

Harvard Style

Nuno Cordeiro Raposo, Nadia Mourinho Bala, Sonia Pratas, Cristina Valadas (2021) A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation. EJMCR, 16 (December 2021): 341-344. doi:10.24911/ejmcr/173-1629190180

Chicago Style

Nuno Cordeiro Raposo, Nadia Mourinho Bala, Sonia Pratas, Cristina Valadas. "A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation." 16 (2021), 341-344. doi:10.24911/ejmcr/173-1629190180

MLA (The Modern Language Association) Style

Nuno Cordeiro Raposo, Nadia Mourinho Bala, Sonia Pratas, Cristina Valadas. "A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation." 16.December 2021 (2021), 341-344. Print. doi:10.24911/ejmcr/173-1629190180

APA (American Psychological Association) Style

Nuno Cordeiro Raposo, Nadia Mourinho Bala, Sonia Pratas, Cristina Valadas (2021) A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation. , 16 (December 2021), 341-344. doi:10.24911/ejmcr/173-1629190180