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.