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

• 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

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

背景资料：甲状腺髓样癌（MTC）是一种散发性和遗传性疾病，具有多发性内分泌瘤（MEN），2A型; MEN，2B型;家族性非MEN髓样癌（FMTC）;作为遗传型的特征。遗传形式是常染色体显性性状，与RET原癌基因的种系突变有关。血清降钙素刺激水平的测定是甲状腺髓样癌的敏感和特异性标志物。基因检测确定突变基因的携带者，并允许预防性甲状腺切除术在这样的individual.Methods：一个大规模的全国性问卷调查，在1996年和2002年再次进行。这是一个报告的两个调查，其特点的临床过程中的遗传形式的MTC，确定由两个survey.Results：在1996年的634例，175（27.6%）MEN 2A; 49（7.7%），FMTC ; 20，MEN 2B;和390，散发性MTC。总体男女比例为1：2.5，MEN 2A患者为1：1.7，MEN 2A患者为1：2.3， ...更多信息 在FMTC患者中为1：0.9;在EN 2B患者中为1：0.9;在散发性MTC患者中为1：3.3。MEN 2A患者诊断时的平均年龄为40.3岁，FMTC患者为43.6岁，MEN 2B患者为26.5岁，散发性MTC患者为48.5岁。导致家族性MTC临床诊断的最常见发现是颈部肿块。从2002年的调查，在271名患者中，83名（30.6%）患有MEN 2A; 14名（5.1%）患有FMTC ; 11名（4.1%）患有MEN 2B; 163名（60.1%）患有散发性MTC。男性与女性的比例总体为1：1.8; MEN 2A患者为1：1.4; FMTC患者为1：0.8; MEN 2B患者为1：1.8;散发性MTC患者为1：2.3。MEN 2A患者的平均年龄为35.6岁; MEN 2A患者为34.6岁; MEN 2B患者为30.5岁;散发性MTC患者为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：MEN 2A为96.9%、FMTC为100%、MEN 2B为73.8%、散发性MTC为90.8%。2)男性与女性的比例并没有实质性的差异，在两次调查中，虽然在家族性和散发性MTC的比例显示出下降的趋势。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。少

项目成果

Takami, H., Ikeda, Y., Okinaga, W., Kameyama, K.: "Review : Recent adcances in the management of primary hyperathyroidism"Endocrine Journal. 50(4). 369-377 (2003)

Takami, H.、Ikeda, Y.、Okinaga, W.、Kameyama, K.：“综述：原发性甲状旁腺功能亢进治疗的最新进展”内分泌杂志。

Takami, H.: "Medullary thyroid carcinoma and multiple endocrine neoplasia type 2"Endocrine Pathology. 14(2). 123-132 (2003)

Takami, H.：“甲状腺髓样癌和多发性内分泌肿瘤 2 型”内分泌病理学。

Takami, H.: "Medullary thyroid carcinoma and multiple endocrine neoplasia type 2"Endocrine pathology. 14. 123-132 (2003)

Takami, H.：“甲状腺髓样癌和多发性内分泌肿瘤 2 型”内分泌病理学。

Takami, H.: "Review : Recent adcances in the management of primary hyperparathyroidism"Endcrine Journal. 50. 369-377 (2003)

Takami, H.：“综述：原发性甲状旁腺功能亢进治疗的最新进展”内分泌杂志。

Hiroshi Takami: "Medullary Thyroid Carcinoma and Multiple Endocrine Neoplasia Type 2"Endocrine Pathology. Vol.14 No.2. 123-131 (2003)

Hiroshi Takami：“甲状腺髓样癌和多发性内分泌肿瘤2型”内分泌病理学。