Understanding the genotype of follicular thyroid tumors

Abstract

Tumors of the thyroid with a follicular growth pattern are controversial and can be diagnostically challenging for the pathologist. This group of tumors includes both follicular derived lesions (adenomas and carcinomas) and papillary carcinoma (follicular variant of papillary carcinoma). H&E morphology has classically been the gold standard for diagnosis. In the past several decades, however, several important molecular markers have been identified that may be unique to different types of thyroid carcinomas. These include the translocations RET/PTC and PAX8-PPARgamma and point mutations in the BRAF and RAS genes. Other molecular events in tumor suppressor genes may be useful for diagnosis of these tumors as well. None of the mutational markers are very sensitive, and there is some question regarding specificity for malignancy, because mutations have also been described in histologically benign tumors. However, with increasing availability of molecular testing for the general pathologist, a molecular testing panel used in conjunction with the H&E morphology and immunohistochemical stains may become useful in the clinical setting for the diagnosis of thyroid tumors.