Abstract
Gene rearrangement analysis is arguably the first molecular diagnostic assay used in dermatology and dermatopathology, and it continues to be the primary molecular method used in diagnostic algorithms for mycosis fungoides (MF) and Sezary syndrome (SS). Because clonal expansion is a normal response by lymphocytes exposed to antigen, clonality and malignancy are not synonymous terms. A significant subset of patients with reactive inflammatory conditions may have a detectable clone, and, conversely, due to limitations of the molecular assays, clones may not be detected in a significant subset of MF/SS patients. PCR-based assays are the most commonly used methods to assess clonality. These assays have significant limitations, with extreme variations in performance characteristics, assay design, and interpretation of data. The diagnosis of MF/SS relies upon the incorporation of the molecular data with the clinical, histologic, and immunohistochemical features—a prototype of the multipronged diagnostic approach.
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