Gastrointestinal stromal tumor

Gastrointestinal stromal tumor 

Updated: 02/17/2021

© Jun Wang, MD, PhD

General features
  • Most common mesenchymal tumor of gastrointestinal tract
  • Unknown etiology
  • May be familial 
  • Most commonly seen in stomach and proximal small intestine
  • Arises from or is differentiated towards interstitial cell of Cajal
  • More common in elder adults, male
  • May be malignant
Clinical presentations
  • Asymptomatic or non specific upper GI or systemic symptoms
  • May be associated with neurofibromatosis type 1, Carney’s triad (gastric GIST, paraganglioma, pulmonary chondroma, NOT Carney syndrome), familial GIST syndrome, Carney-Stratakis syndrome
Key pathological features
Genetic abnormalities
  • Activating mutation of c-kit
  • Some have PDGFR-alpha mutation
Markers
  • Positive for CD34, CD117 (c-kit)
Treatment
  • Surgery
  • Targeted therapy (imatinib mesylate, sunitinib malate) for cases with c-kit/PDGFRA mutations



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