Mohammadi Masoumeh, Hedayati Mehdi
Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Cell J. 2017 Winter;18(4):485-492. doi: 10.22074/cellj.2016.4715. Epub 2016 Sep 26.
Approximately 5-10% of all thyroid cancers are medullary thyroid carcinomas (MTC). MTC is mainly sporadic in nature, but 20-30% of cases are hereditary. Genetic testing for hereditary MTC is very important for the patient and his family, but the patients must be receiving appropriate genetic counseling. About 98% of patients with hereditary MTC have germline mutations in exons 10, 11, 13, 14, 15, 16 and intron 16 of the REarrangement during transfection (RET) proto-oncogene, but the etiology of the more frequent sporadic form of MTC (sMTC) is not well understood. Recently, it has been reported that apparently sporadic MTC may involve point mutations in BRAF and RAS genes, with an overall prevalence of almost 10%. Also alteration and abnormal expression of miRNA has been described in MTC. In this review, we attempted to mention some mutations and molecular changes in sporadic and hereditary MTC pathogenesis.
所有甲状腺癌中约5%-10%为甲状腺髓样癌（MTC）。MTC本质上主要为散发性，但20%-30%的病例为遗传性。遗传性MTC的基因检测对患者及其家族非常重要，但患者必须接受适当的遗传咨询。约98%的遗传性MTC患者在转染重排（RET）原癌基因的第10、11、13、14、15、16外显子及16内含子中有胚系突变，但对于更常见的散发性MTC（sMTC）的病因尚不清楚。最近有报道称，明显散发性的MTC可能涉及BRAF和RAS基因的点突变，总体患病率近10%。此外，MTC中还描述了miRNA的改变和异常表达。在本综述中，我们试图提及散发性和遗传性MTC发病机制中的一些突变和分子变化。
