Onkologie. 2011:5(6):325-328

Genetics of Thyroid Cancer and its Molecular Target Therapy

Běla Bendlová, Šárka Dvořáková, Vlasta Sýkorová, Tereza Hálková, Eliška Václavíková

Endokrinologický ústav, Praha

Thyroid cancer is the most frequent neoplasm of endocrine system. The major type of thyroid tumor is papillary thyroid carcinoma, in

which point mutations in the BRAF and RAS genes and RET/PTC rearrangements are found. The most frequent molecular genetic changes

in follicular thyroid carcinoma are mutations in the RAS genes and PAX8-PPARγ rearrangemets. Point mutations in the RET proto-oncogene

are crucial for development of medullary thyroid carcinoma, where germ-line and somatic mutations occur in familial and sporadic

form, respectively. Mutations in the BRAF and RAS genes and moreover mutations in the TP53 and CTNNB1 genes are also detected in the

most aggressive anaplastic thyroid carcinoma. Thanks to the finding of genetic causes of thyroid cancer, these genes and their mutations

begin to be investigated as promising therapeutic targets. Many compounds show anti-tumor effect in preclinical studies. The most

promising tyrosine kinase inhibitors are Vandetanib, Sunitinib and Sorafenib, which are investigated in thyroid tumor cell-lines, animal

models and clinical studies on patients with metastatic stage of thyroid cancer.

Keywords: RET, BRAF, thyroid cancer, mutation, inhibitors

Published: December 1, 2011  Show citation