GENETIC DIAGNOSIS FOR MULTIPLE ENDOCRINE NEOPLASIA TYPE 1

• Published in: Japanese Journal of National Medical Services Vol. 57; no. 6; pp. 414 - 419
• Main Author: TSUKADA, Toshihiko
• Format: Journal Article
• Language: Japanese
• Published: Japanese Society of National Medical Services 2003; 一般社団法人 国立医療学会
• Subjects: familial hyperparathyroidism; genetic test; MEN 1; multiple endocrine neoplasia type 1; parathyroid tumor; 副甲状腺腫瘍; 多内分泌腺腫瘍症1型; 家族性副甲状腺機能亢進症; 遺伝子診断
• ISSN: 0021-1699; 1884-8729
• DOI: 10.11261/iryo1946.57.414

The genetic test for multiple endocrine neoplasia type 1 (MEN 1) is a useful tool for decision making in the management of patients with MEN 1 and related diseases. Because of the lack of mutation hot spots in the causative gene MEN 1, the entire gene region should be examined in the proband cases. The detection rates of germline mutations in the familial and the sporadic MEN 1 are 90% and 70%, respectively, indicating that the diagnosis of MEN 1 may not be excluded even when no germline mutation is identified. Genetic heterogeneity of MEN 1, possible phenocopy and limitations of the analytical methods should be taken into consideration in the mutation-negative MEN 1 cases.