MEN1 gene analysis in patients with primary hyperparathyroidism: 10-year experience of a single institution for thyroid and parathyroid care in Japan.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disease. Primary hyperparathyroidism is known to occur at an early age in MEN1 patients. In MEN1 patients, special care regarding not only surgery for hyperparathyroidism but also other MEN1-related tumors is required. Between 1998 and 2007, 482 patients, including 16 whose hyperparathyroidism was discovered by family screening for MEN1, underwent surgical therapy for primary hyperparathyroidism at our institution. We recommended MEN1 gene analysis for patients having one of the following clinicopathological features: 1) age younger than 30 years old; 2) enlargement of multiple glands; 3) coexistence or presence of past history of MEN1-related tumors; or 4) family history of hyperparathyroidism or MEN1-related tumors. Sixty patients had at least one of the above features and were recommended for genetic analysis. Thirty-nine of these patients consented to undergo MEN1 genetic analysis and 16 (41%) showed MEN1 mutation. Pathological examination confirmed multiglandular parathyroid hyperplasia in 15 cases. Subject to this strategy, MEN1 index patients in Japan could be detected efficiently and selected for appropriate therapies for hyperparathyroidism and MEN1-related tumors.