Review

Genetic Basis of Thyroid Carcinoma: A Review

10.5222/otd.2013.001

  • Turgay Şimşek
  • Nuh Zafer Cantürk

Received Date: 22.08.2012 Accepted Date: 21.09.2012 Eur Arc Med Res 2013;29(1):1-7

Thyroid cancer is the most widespread endocrine malignancy and responsible for the majority of endocrine cancer-related deaths each year. Germ-line transition has been demonstrated in differentiated follicular cancers originating from thyroid follicular epithelium, similar to medullary thyroid cancer. Although it is not shown on a detailed study that a mutation or a gene is responsible for it, it is still possible to speak of genetic susceptibility to thyroid cancer. It focuses on a number of possible tumor suppressor genes and oncogenes. The application of molecular technologies on the study of these tumors over the past two decades has shed considerably light on the association of genetic abnormalities with the development of the major thyroid tumor types.

Although genetic mutations like RET, TRK, BRAF and RAS are found in approximately 70% of PTCs, they rarely overlap in the same tumor. A common feature of these mutations is that they are all involved with signaling along the mitogen-activated protein kinase (MAPK) pathway. RAS mutations are uncommon in the follicular variant of papillary carcinomas. The presence of PAX8-PPARg translocations, RAS, CTNNB1 and p53 mutations in folllicular thyroid cancer may be a marker for progression to poorly differentiated and undifferentiated carcinoma. RET rearrangements have been identified in both heritable and sporadic medullary thyroid carcinoma.

Keywords: RET/PTK, TRK, RAS, BRAF, PAX8-PPARg, p53