Author/Authors :
Mohammadi ، Masoumeh نويسنده , , Hedayati، Mehdi نويسنده Obesity Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran ,
Abstract :
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.