Pre-symptomatic diagnosis and clinical assessment of genetic analysis for familial endocrine tumors

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1. Analyses of MEN-1 gene for endocrine tumorsAccoriding to the initial aim of this project, I studied abnormalities of MEN-1 gene for sporadic endoctrine tumors. The results that the incident of MEN-1 gene mutation for sporadic endocrine tumors was very low suggest that there was different mechanism for tumorigenesis from familial ecdocrine tumors. As far as MEN-1 gene is not responsible gene for sporadic endocrine tumors, it is impossible to produce endocrine tumors by using gene induction technique.2. Genetic analyses of ret-oncogene for familial medullary thyroid carcinoma (FMTC)I studied two families of FMTC and one family of MEN-IIA. Family A , involving three patients with medullary thyroid carcinoma (MTC) and two carriers, was diagnosed FMTC with a RET codon 609 mutation. MTCs in this family were very slow progressive. Clinical strategy of this family is to perform total thyroidectomy for the patient developed MTC. Family B, involving two patients with MTC and two carriers, also was diagnosed FMTC with a RET codon 620 mutation. Family C, involving five patients with MTC, one patient with pheochromocytoma and two carriers, was diagnosed MEN-IIA with a RET codon 634 mutation. I am going to study further these three family members according to the guideline from Japanese Ministry of Health, Labor and Welfare.