Intractable Rare Dis Res. 2012;1(1):27-29. (DOI: 10.5582/irdr.2012.v1.1.27)

Identification of a germline mutation in the HRPT2 gene in a Chinese family with parathyroid carcinomas.

Zhang M, Li Q, Zhang LL, Fu RZ, Wang YL, Chen SH, Yuan K, Gu H, Cui YZ


This study reported a family with primary hyperparathyroidism due to parathyroid carcinoma and investigated the pathological and genetic features of family members. Three members of the family had clinical manifestation of primary hyperparathyroidism and tumors in the neck. All three patients underwent parathyroidectomy, thyroidectomy and level-VI neck dissection and were definitively diagnosed based on pathology. The index case was a patient that was found to have parathyroid carcinoma on the right side and parathyroid adenoma on the left side. The other two patients had local tumor recurrence and metastasis to distant organs. A germline mutation in the HRPT2 gene (Arg91Pro) was identified in all of the patients in this family. Study of the literature indicated that this is the first report of familial parathyroid carcinomas with an HRPT2 gene missense mutation. Results also indicated that HRPT2 may play an important role in the development of parathyroid carcinoma.

KEYWORDS: Familial, parathyroid tumor, hyperparathyroidism, HRPT2

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