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

家族性内分泌肿瘤的症状前诊断和基因分析的临床评估

基本信息

批准号：
11671174
负责人：
IWASAKI Hiroyuki
金额：
$ 2.24万
依托单位：
International University of Health and Welfare (2002)Yokohama City University (1999-2001)
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
1999
资助国家：
日本
起止时间：
1999 至 2002
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-11671174/
关键词：
familial medullary thyroid carcinoma MEN parathyroid tumor MEN-I MEN-II 副甲状腺腺腫

项目摘要

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.

1. MEN-1基因在内分泌肿瘤中的表达分析根据本课题的初步研究目的，我对散发性内分泌肿瘤MEN-1基因的异常进行了研究。散发性内分泌肿瘤MEN-1基因突变发生率极低，提示其发生机制与家族性内分泌肿瘤不同。由于MEN-1基因不是散发性内分泌肿瘤的致病基因，因此利用基因诱导技术不可能产生内分泌肿瘤.家族性甲状腺髓样癌（FMTC）ret癌基因的遗传学分析我研究了两个FMTC家系和一个MEN-IIA家系。家族A，包括3例甲状腺髓样癌（MTC）患者和2例携带者，被诊断为FMTC与RET密码子609突变。这个家族的MTCs进展非常缓慢。这个家族的临床策略是对发展成MTC的患者进行甲状腺全切除术。家族B，包括两名MTC患者和两名携带者，也被诊断为FMTC与RET密码子620突变。家族C，包括5例MTC患者，1例嗜铬细胞瘤患者和2例携带者，被诊断为MEN-IIA，RET密码子634突变。我将根据日本厚生劳动省的指导方针对这三位家庭成员进行进一步的研究。