Amosenko F A, Brzhezovskiĭ V Zh, Liubchenko L N, Shabanov M A, Kozlova V M, Vanushko V E, Kazubskaia T P, Gar'kavtseva R F, Kalinin V N
Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, 115478 Russia.
Genetika. 2003 Jun;39(6):847-54.
The spectrum of mutations of the RET protooncogene was analyzed in Russian patients with inherited or sporadic medullary thyroid carcinoma (MTC). Four RET exons (11, 13, 15, and 16) were subjected to molecular analysis, and mutations were revealed and identified in 47.4% (9/19) patients with sporadic MTC. In total, six mutations (including three new ones) were observed. The most common mutation affected codon 918 to cause substitution of methionine with threonine and accounted for 31.6% alleles. Analysis of exons 11 and 16 revealed four mutations in patients with inherited multiple endocrine neoplasia type 2 (MEN 2). Mutations were found in each patient. Thyroidectomy was performed in four asymptomatic carriers of RET mutations from three MET 2A families (in two families, affected relatives had bilateral pheochromocytoma). In two patients, analysis of the surgery material revealed MTC microfoci in both lobes of the thyroid gland. The results provide the ground for constructing a bank of genetic information on Russian MTC patients with the clinically verified diagnosis.
对俄罗斯遗传性或散发性甲状腺髓样癌（MTC）患者的RET原癌基因突变谱进行了分析。对四个RET外显子（11、13、15和16）进行了分子分析，在47.4%（9/19）的散发性MTC患者中发现并鉴定出突变。总共观察到六个突变（包括三个新突变）。最常见的突变影响密码子918，导致甲硫氨酸被苏氨酸取代，占等位基因的31.6%。对11号和16号外显子的分析在遗传性2型多发性内分泌腺瘤病（MEN 2）患者中发现了四个突变。在每位患者中均发现了突变。对来自三个MEN 2A家族的四名RET突变无症状携带者进行了甲状腺切除术（在两个家族中，患病亲属患有双侧嗜铬细胞瘤）。在两名患者中，对手术材料的分析显示甲状腺两叶均有MTC微灶。这些结果为建立俄罗斯临床诊断确诊的MTC患者遗传信息库奠定了基础。
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