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
|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)
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
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%.
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