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

Research Project

Project/Area Number 14571158
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field General surgery
Research InstitutionTeikyo University

Principal Investigator

TAKAMI Hiroshi  Teikyo Univ., Sch Med, Prof., 医学部, 教授 (10146714)

Co-Investigator(Kenkyū-buntansha) FUKUTOMI Takeshi  National Cancer Ctr., Chief Res., 主任研究員
IKEDA Yoshihumi  Teikyo Univ., Sch Med, Assi Prof., 医学部, 講師 (20222870)
KODAIRA Susummu  Teikyo Univ., Sch Med, Prof., 医学部, 教授 (00110015)
KAMEYAMA Kaori  Keio Univ., Sch Med, Assi Prof., 医学部, 講師 (10245467)
MAKI Yoshio  Cancer Foundation Res., Chief Res., 癌研究所・遺伝子診断部, 主任研究員 (10281594)
菅 重尚  帝京大学, 医学部, 助手
Project Period (FY) 2002 – 2003
Project Status Completed (Fiscal Year 2003)
Budget Amount *help
¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2003: ¥1,500,000 (Direct Cost: ¥1,500,000)
Fiscal Year 2002: ¥1,900,000 (Direct Cost: ¥1,900,000)
KeywordsMedullary Carcinoma / RET oncogene / Familial Breast Cancer / Genetic test / BRCA gene
Research Abstract

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

Report

(3 results)
  • 2003 Annual Research Report   Final Research Report Summary
  • 2002 Annual Research Report
  • Research Products

    (6 results)

All Other

All Publications (6 results)

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

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Takami, H.: "Review : Recent adcances in the management of primary hyperparathyroidism"Endcrine Journal. 50. 369-377 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Takami, H.: "Medullary thyroid carcinoma and multiple endocrine neoplasia type 2"Endocrine Pathology. 14(2). 123-132 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Takami, H., Ikeda, Y., Okinaga, W., Kameyama, K.: "Review : Recent adcances in the management of primary hyperathyroidism"Endocrine Journal. 50(4). 369-377 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Hiroshi Takami: "Medullary Thyroid Carcinoma and Multiple Endocrine Neoplasia Type 2"Endocrine Pathology. Vol.14 No.2. 123-131 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] 亀山 香織, 高見 博: "遺伝性甲状腺髄様癌の臨床とRET遺伝子:第35回 甲状腺外科研究会アンケートより"ENDOCRINE SURGERY. Vol.20 No.4. 395-400 (2003)

    • Related Report
      2003 Annual Research Report

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Published: 2002-04-01   Modified: 2017-06-08  

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