Assessing the Utility of a Mutational Assay for B-RAF as an ... : Advances in Anatomic Pathology (original) (raw)

Review Articles

Assessing the Utility of a Mutational Assay for B-RAF as an Adjunct to Conventional Fine Needle Aspiration of the Thyroid Gland

Tetzlaff, Michael T. MD, PhD; LiVolsi, Virginia MD; Baloch, Zubair W. MD, PhD

Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, 3400 Spruce Street, Philadelphia, PA 19104-4283

Reprints: Zubair W. Baloch, MD, PhD, Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, 3400 Spruce Street, Philadelphia, PA 19104-4283 (e-mail: [email protected]).

Abstract

Thyroid carcinoma is the most common endocrine malignancy; it is typified by a number of classical genomic insults, which tend to cluster with the discrete histologic subtypes. The most common of these is a mutation in B-RAF, which is present in approximately 44% (29% to 83%) of cases. In this review we have assessed the potential utility of a molecular test for somatically acquired mutations in B-RAF using thyroid malignancy as a model system according to 3 fundamental questions: would a test enhance our ability to distinguish benign from malignant, would a test unveil a risk factor not otherwise known, and would detecting a mutation enable a therapeutic option specific to those patients who carry the mutation?