Rovcanin B, Damjanovic S, Zivaljevic V, Diklic A, Jovanovic M, Paunovic I
Center for Endocrine Surgery, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Institute of Endocrinology, Diabetes and Metabolic Disease, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Hippokratia. 2016 Jul-Sep;20(3):187-191.
Medullary thyroid carcinoma (MTC) is a type of thyroid neoplasm which originates from parafollicular cells, and it is commonly diagnosed by calcitonin screening. Besides the sporadic form, the heritable form of MTC is characterized by constitutive activation of the RET (REarranged during Transfection) proto-oncogene caused by different mutations.
We collected data regarding RET genetic screening performed in the Center for Endocrine Surgery in Belgrade during a 20-year-period. The study group included 249 MTC patients who were genetically tested for RET mutations by Sanger's sequencing method.
Genetic screening of the study population revealed nine different mutations of the RET gene in 42 carriers. The most common mutation was C634F, and it has been detected in 31 % (13/42) of individuals, while C618R, L790F, and S904S were present in only 2 % (1/42) each in the study group. Detected mutations were unequally distributed in different RET gene exons. Among MTC patients, 67 % (28/42) had mutation harbored in exon 11, while the rarest mutation was located in exons 10 and 15, each present in only 2 % (1/42) of patients.
The RET gene mutation profile has a unique distribution in this study population when compared with the other European populations. The mutations in codon 634 are most common; therefore the cost-reducing genetic screening should primarily target this codon, and if the negative outcome appears, then other codons should be examined in the order that depends on their occurrence. Hippokratia 2016, 20(3): 187-191.
甲状腺髓样癌（MTC）是一种起源于滤泡旁细胞的甲状腺肿瘤，通常通过降钙素筛查进行诊断。除散发型外，遗传性MTC的特征是由不同突变导致的RET（转染期间重排）原癌基因的组成性激活。
我们收集了贝尔格莱德内分泌外科中心在20年期间进行的RET基因筛查数据。研究组包括249例通过桑格测序法进行RET基因突变基因检测的MTC患者。
对研究人群的基因筛查发现42名携带者中有9种不同的RET基因突变。最常见的突变是C634F，在31%（13/42）的个体中被检测到，而C618R、L790F和S904S在研究组中各仅占2%（1/42）。检测到的突变在不同的RET基因外显子中分布不均。在MTC患者中，67%（28/42）的突变位于外显子11，而最罕见的突变位于外显子10和15，各仅在2%（1/42）的患者中出现。
与其他欧洲人群相比，本研究人群的RET基因突变谱具有独特的分布。密码子634处的突变最为常见；因此，降低成本的基因筛查应主要针对该密码子，如果结果为阴性，则应按照其出现频率的顺序检查其他密码子。《希波克拉底》2016年，20(3): 187 - 191。
