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.
Key words: Parathyroid carcinoma, hyperparathyroidism, CDC73 mutation, case report
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