ABSTRACT
Genetic testing in endocrine disease relates to the multiple endocrine neoplasia (MEN) syndromes. Thyroid malignancy is the most common cancer of the endocrine organs. Several gene mutations and alterations in signalling pathways are now recognized as important events in the development and progression of thyroid cancer. Several of the known oncogenes have been consistently detected in differentiated thyroid neoplasms. However, recent years have seen major advances in understanding the role of two classes of genes that are of particular importance in carcinogenesis that provide a more comprehensive picture: oncogenes and tumour suppressor genes. The understanding of parathyroid tumour biology is less developed than thyroid; however, advancements in genetic testing have demonstrated areas of potential. Polymerase chain reaction (PCR) and immunohistochemistry techniques based on products of specific genetic mutations may aid in differentiation of adenomas, hyperplasia and carcinoma. Further identification of genes may allow targeted anti-neoplastic agents in the age of targeted molecular therapeutics.
