Desmoid tumor diagnostic study of choice

Desmoid tumor Microchapters
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Case #1

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2]

Overview

Definitive diagnosis of a desmoid tumor can only be established by histological examination of a biopsy specimen. Electron microscopy can be done which shows spindle cells of desmoids appearing as myofibroblasts. Immunohistochemical stains show high nuclear reactivity for beta-catenin accumulation in nucleus.

Diagnostic study of choice

• Biopsy is the most important and conclusive diagnostic procedure for desmoid tumor
• After biopsy, definitive diagnosis must be established on histopathologic analysis
• Electron microscopy is performed to obtain further clarity and confirmation for the diagnosis
• Spindle cells of desmoid tumors appear to be myofibroblasts on electron microscopy which represents an abnormal proliferation of myofibroblasts, which normally disappear gradually during the later stages of wound healing
• Immunohistochemical stains are done to look for nuclear accumulation of beta-catenin
• Regardless of the site, 90% of desmoids show nuclear reactivity (has relatively high specificity)