MEN consortium in Japan

• Published in: JOURNAL OF FAMILIAL TUMORS Vol. 19; no. 1; pp. 40 - 44
• Main Authors: Uchino, Shinya, Suzuki, Shinichi, Kosugi, Shinji, Sakurai, Akihiro, Okamoto, Takahiro, Imai, Tsuneo
• Format: Journal Article
• Language: Japanese
• Published: The Japanese Society for Familial Tumors 2019; 一般社団法人日本遺伝性腫瘍学会; The Japanese Society for Hereditary Tumors
• Subjects: MEN consortium Japan, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 2, Genetic diagnosis of the MEN1 gene, Genetic diagnosis of the RET gene; MENコンソーシアム，多発性内分泌腺腫瘍症1型，多発性内分泌腺腫瘍症2型，MEN1遺伝学的検査，RET遺伝学的検査
• ISSN: 1346-1052; 2189-6674
• DOI: 10.18976/jsft.19.1_40

Multiple endocrine neoplasia (MEN) is a hereditary tumor syndrome with a development of tumors in multiple endocrine organs and is clinically divided into MEN1 and MEN2. MEN1 is autosomal dominantly inherited syndrome characterized by primary hyperparathyroidism (parathyroid hyperplasia), pancreatic gastroduodenal neuroendocrine tumor, pituitary tumor, adrenal cortical hyperplasia, and thymic neuroendocrine tumor. The causative gene for this syndrome is MEN1 gene located on chromosome 11q13. MEN2 is also autosomal dominantly inherited syndrome characterized by medullary thyroid carcinoma, pheochromocytoma and primary hyperparathyroidism (parathyroid hyperplasia). The causative gene for MEN2 is RET gene located on chromosome 10q11.2. Both syndromes are rare diseases with the occurrence rate being only about between 1/30,000 and 1/40,000 peoples, and the details of the disease characteristics in Japanese patients had not been well known. Therefore, we established MEN consortium Japan in 2008. The aims of activities in MEN consortium Japan are the construction of database, current situation survey for Japanese MEN patients, the construction of clinical guideline, improvement of diagnosis and treatment, support for MEN patients and families, and educational activities. The achievements of this consorsium are the collection and analysis of clinical data of MEN patients, the construction of diagnostic flowchart, the construction of degree of severity of the disease, accession of genetic diagnosis of the MEN1 and RET genes, the promotion of genetic diagnosis to advanced medical technology and insurance listing, the spread of information of the diseases by consortium’s home page, the publication of clinical guide book, the publication of patient’s book for MEN, the support for patient’s association, held of public open lectures all over Japan. To continue these activities, it is necessary to maintain not only the network for doctors performing a medical care for MEN, but also the economic base.