Desmoid tumor diagnostic study of choice

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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

Diagnostic study of choice for desmoid tumors is biopsy. After biopsy, electron microscopy is 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, 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)