Desmoid tumor pathophysiology

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: Faizan Sheraz, M.D. [2]

Pathophysiology

Their exact aetiology remains uncertain, although they are frequently associated with previous trauma or surgical incision. On the molecular level, desmoids are characterised by mutations in the β-catenin gene, CTNNB1, or the adenomatous polyposis coli gene, APC.

Associated Diseases

• Some cases have been associated with estrogen therapy
• Gardner syndrome
• In the case of mesenteric desmoid they are seen either sporadically or in association with familial polyposis coli syndrome(FAP): 9-18 of FAP cases may have a desmoid tumor.

Location

Frequent locations in the abdomen are the abdominal wall, the root of the mesentery and the retroperitoneum.

Histologically, desmoid tumors consist of elongated fibroblasts and myofibroblasts characterized by elongated, tapered cytoplasm; elongated, vesicular, typical-appearing nuclei; and multiple small nucleoli. The cells are linearly arranged and are surrounded and separated from each other by collagen. These tumors show a tendency to evolve over time. Vandevenne et al described three stages of evolution of desmoid tumors. In the first stage, lesions are more cellular and have fewer areas of hyalinized collagen. In the second stage, there is an increasing amount of collagen deposition in the central and peripheral areas of the tumor. In the third stage, there is an increase in the fibrous composition with a decrease in cellularity and water content. Abdominal wall desmoid tumors arise from musculoaponeurotic structures of the abdominal wall, especially the rectus and internal oblique muscles and their fascial coverings, and occasionally cross the midline. Less commonly, they originate from the external oblique muscle and the transversalis muscle or fascia. These masses have a firm, gritty texture. On the cut surface, they are glistening white and coarsely trabeculated, resembling scar tissue