A newly recognized germline mutation of MEN1 gene identified in a patient with parathyroid adenoma and carcinoma.

We report on a patient with primary hyperparathyroidism, owing to the concurrence of parathyroid adenoma with carcinoma, who had a newly recognized germline mutation of the multiple endocrine neoplasia type 1 gene (MEN1 gene). The patient underwent total parathyroidectomy, and histological examination revealed parathyroid carcinoma and multiple adenoma of the other three glands. Genetic analysis revealed a newly recognized heterozygous germline mutation (842delC, exon 4) of the MEN1 gene. Both imaging studies and laboratory data showed no evidence of MEN1 in the patient. Four family members--three sisters and one daughter--had neither clinical features of MEN1 nor genetic evidence of the MEN1 gene. This is the first report of a germline mutation of the MEN1 gene found in a patient who exhibited the concurrence of parathyroid adenoma with carcinoma, suggesting that long-term hyperactivity of the parathyroids may result in the formation of carcinoma.