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New Genetic Test and Surgery for Inherited Thyroid Garcinoma and Breast Cancer

针对遗传性甲状腺癌和乳腺癌的新基因检测和手术

基本信息

批准号：
14571158
负责人：
TAKAMI Hiroshi
金额：
$ 2.18万
依托单位：
Teikyo University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2002
资助国家：
日本
起止时间：
2002 至 2003
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-14571158/
关键词：
Medullary Carcinoma RET oncogene Familial Breast Cancer Genetic test BRCA gene

项目摘要

Background : Medullary thyroid carcinoma (MTC) is a sporadic and inherited disease with multiple endocrine neoplasia (MEN), type 2A; MEN, type 2B; familial non-MEN medullary carcinoma (FMTC) ; as features of the inherited type. The inherited forms are autosomal dominant traits, associated with germline mutations of the RET protooncogene. Determination of stimulated levels of serum calcitonin is a sensitive and specific marker for medullary thyroid carcinoma. Genetic testing identifies carriers of the mutant gene and allows preventive thyroidectomy in such individuals.Methods : A large scale nationwide questionnaire survey was conducted in 1996 and again in 2002. This is a report of the two surveys that characterizes the clinical course of the inherited form of MTC, as determined by the two surveys.Results : Among 634 cases in 1996, 175 (27.6%) were MEN2A ; 49 (7.7%), FMTC ; 20, MEN2B ; and 390, sporadic MTC. The overall male to female ratio was 1:2.5 ; 1:1.7 in MEN2A patients ; 1:2.3 i … More n FMTC patients ; 1:0.9 in EN2B patients ; and 1:3.3 in patients with sporadic MTC. The mean age, at the time of diagnosis, was 40.3 years in MEN2A patients, 43.6 years in FMTC patients, 26.5 years in MEN2B patients, and 48.5 years in patients with sporadic MTC. The most common finding that led to the clinical diagnosis of familial MTC was a mass in the neck. From the survey of 2002, among the 271 patients, 83 (30.6%) had MEN2A ; 14 (5.1%), FMTC ; 11(4.1%), MEN2B ; and 163 60.1%), sporadic MTC. The male to female ratio was 1:1.8 overall ; 1:1.4, in MEN2A patients ; 1:0.8 in FMTC patients ; 1:1.8 in the MEN 2B patients ; and 1:2.3 in the patients with sporadic MTC. Mean age was 35,6 years in MEN2A patients ; 34.6 years in MEN2A patients ; 30.5 years in MEN2B patients ; and 47.6 years in patients with sporadic MTC. The most common clinical finding that led to the diagnosis was the detection of a RET mutation. The overall 5-year survival rates were : MEN 2A, 96.9% ; FMTC, 100% ; MEN2B, 73.8% ; and sporadic MTC, 90.8%.Conclusions :1) MEN2A was the most common inherited type of MTC in these surveys, followed by FMTC and MEN2B. 2) The male to female ratio did not substantially differ in the two surveys, although the ratios in the familial and sporadic MTC showed a tendency to decrease. 3) The age at the time of diagnosis decreased in all four categories between the two surveys, 10. Less

背景：甲状腺髓样癌(MTC)是一种以遗传性多发性内分泌肿瘤(MEN)为特征的散发性遗传性疾病，包括2A型、2B型和家族性非男性髓样癌。遗传形式是常染色体显性特征，与RET原癌基因的胚系突变有关。血清降钙素刺激性水平的测定是诊断甲状腺髓样癌的敏感而特异的指标。基因检测确定了突变基因的携带者，并允许对这些个体进行预防性甲状腺切除术。方法：1996年和2002年进行了一次大规模的全国性问卷调查。结果：在1996年的634例中，175例(27.6%)为MEN2A，49例(7.7%)为FMTC，20例为MEN2B，390例为散发性MTC。总体男女比例为1：2.5；MEN2 A患者为1：1.7；I…为1：2.3更多的FMTC患者；EN2B患者为1：0.9；散发性MTC患者为1：3.3。确诊时，MEN2A患者的平均年龄为40.3岁，FMTC患者为43.6岁，MEN2B患者为26.5岁，散发性MTC患者为48.5岁。导致家族性MTC临床诊断的最常见的发现是颈部的肿块。从2002年的调查来看，271例患者中，83例(30.6%)为MEN2A，14例(5.1%)为FMTC，11例(4.1%)为MEN2B，163例(60.1%)为散发性MTC。男女比例为1：1.8；MEN2A患者为1：1.4；FMTC患者为1：0.8；男性2B患者为1：1.8；散发性MTC患者为1：2.3。MEN2A患者的平均年龄为35.6岁；MEN2A患者的平均年龄为34.6岁；MEN2B患者的平均年龄为30.5岁；散发性MTC患者的平均年龄为47.6岁。导致诊断的最常见的临床发现是RET突变的检测。5年生存率：男性2A型为96.9%，FMTC型为100%，MEN2B型为73.8%，散发性MTC型为90.8%。结论：1)MEN2A型是本组病例中最常见的遗传型，其次为FMTC型和MEN2B型。2)男女比例在两次调查中没有显著差异，尽管家族性和散发性MTC的比例有下降的趋势。3)在两次调查之间，诊断时的年龄在所有四个类别中都有所下降，10。