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
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
Authors
Correspondence to:
Nuno Cordeiro Raposo, Assistant Physician of Endocrinology, Department of Endocrinology, Hospital Beatriz Angelo, Loures, Portugal nunofilipecordeiroraposo@gmail.com
Publication history:
Received 17 Aug 2021
Revised 29 Nov 2021
Accepted 02 Dec 2021
Published online 16 Dec 2021
Published in print 12 Jan 2022
Raposo NC, Bala NM, Pratas S, Valadas C. A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation. EJMCR. 2021; 5(12): 341-344. doi:
10.24911/ejmcr/173-1629190180
Raposo NC, Bala NM, Pratas S, Valadas C. A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation. https://www.ejmcr.com/?mno=111911 [Access: March 28, 2024]. doi:
10.24911/ejmcr/173-1629190180
Raposo NC, Bala NM, Pratas S, Valadas C. A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation. EJMCR. 2021; 5(12): 341-344. doi:
10.24911/ejmcr/173-1629190180
Raposo NC, Bala NM, Pratas S, Valadas C. A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation. EJMCR. (2021), [cited March 28, 2024]; 5(12): 341-344. doi:
10.24911/ejmcr/173-1629190180
Raposo, N. C., Bala, . N. M., Pratas, . S. & Valadas, . C. (2021) A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation. EJMCR, 5 (12), 341-344. doi:
10.24911/ejmcr/173-1629190180
Raposo, Nuno Cordeiro, Nadia Mourinho Bala, Sonia Pratas, and Cristina Valadas. 2021. A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation. European Journal of Medical Case Reports, 5 (12), 341-344. doi:
10.24911/ejmcr/173-1629190180
Raposo, Nuno Cordeiro, Nadia Mourinho Bala, Sonia Pratas, and Cristina Valadas. "A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation." European Journal of Medical Case Reports 5 (2021), 341-344. doi:
10.24911/ejmcr/173-1629190180
Raposo, Nuno Cordeiro, Nadia Mourinho Bala, Sonia Pratas, and Cristina Valadas. "A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation." European Journal of Medical Case Reports 5.12 (2021), 341-344. Print. doi:
10.24911/ejmcr/173-1629190180
Raposo, N. C., Bala, . N. M., Pratas, . S. & Valadas, . C. (2021) A case report of a patient with parathyroid carcinoma and a CDC73 germline mutation. European Journal of Medical Case Reports, 5 (12), 341-344. doi:
10.24911/ejmcr/173-1629190180