Desmoid tumor diagnostic study of choice

Desmoid tumor Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Desmoid tumor from other Diseases
Epidemiology and Demographics
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
CT
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
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, definitive diagnosis must be established on histopathologic analysis. 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, 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)