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：甲状腺髓样癌（MTC）是一种散发的遗传性疾病，伴有多发性内分泌瘤变（MEN）， 2A型；MEN， 2B型；家族性非男性髓样癌（FMTC）；作为继承类型的特征。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，并允许对这些个体进行预防性甲状腺切除术。方法：1996年和2002年两次在全国范围内进行问卷调查。这是一份关于两项调查的报告，这两项调查确定了遗传性MTC的临床病程。结果：1996年634例患者中，MEN2A 175例（27.6%）；49人（7.7%），FMTC；20，门2b；390，零星的MTC。总体男女比例为1:2.5；MEN2A患者1:7 .7；1:2.3 i…更多FMTC患者；EN2B患者1:9 .9；散发性MTC患者为1:3.3。诊断时，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临床诊断的最常见发现是颈部肿块。从2002年的调查来看，271例患者中有83例（30.6%）患有MEN2A；14人（5.1%），FMTC；11人（4.1%），男性2b；163 60.1%)，散发性MTC。男女比例为1:8；MEN2A患者为1:1.4；FMTC患者1:0.8；MEN 2B患者为1:8 .；散发性MTC为1:2.3。MEN2A患者平均年龄35.6岁；MEN2A患者34.6岁；MEN2B患者30.5年；散发性MTC患者为47.6年。导致诊断的最常见的临床发现是检测到RET突变。总体5年生存率为：MEN 2A， 96.9%；Fmtc, 100%；Men2b, 73.8%；散发性MTC占90.8%。结论：1)MEN2A是MTC最常见的遗传类型，其次是FMTC和MEN2B。2)家族性和散发性MTC的男女比例呈下降趋势，但两种调查的男女比例无显著差异。3)在两次调查中，所有四类诊断时的年龄均有所下降。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。