The Evolving Role of Molecular Diagnostics in Surgical Pathology and Cytology

摘要

It has been said that molecular diagnostics is the nature of diagnostic anatomic pathology. We believe that in many ways the future has arrived. This issue of Pathology Case Reviews is dedicated to an update on current and emerging uses of molecular diagnostics in surgical pathology and cytology. Drs Elsheikh and Rossi discuss the current utilization of molecular testing in the workup of indeterminate fine-needle aspirations of the thyroid. The authors present the value and limitations of current testing platforms and discuss how molecular testing can contribute to the patient's management as an ancillary tool, but not as a reflex test. This article is followed by Dr Silverman and Elsheikh discussing the value of molecular analysis in the workup of metastasis of unknown primary. Metastasis of unknown primary origin is not uncommon, occurring in up to 10% of all noncutaneous malignancies. Routine histology, cytology, and immunohistochemistry can often make the correct diagnosis, but there is a percentage of patients in which the primary site cannot be identified. Therefore, molecular assays have been proposed as a better alternative in these challenging cases. The authors discussed the value and limitations of commercial testing as well as the concept that future targeted therapies may rely not on the identification of the primary site in cases of metastasis of unknown primary origin, but on identification of the molecular signature of the malignancy.