
Many patients with KIT+ GIST are asymptomatic in the early stages, so diagnosis may follow the identification of lesions as the result of unrelated radiographic imaging, endoscopy, or surgeries.1,2 In a population-based study of GISTs in Sweden, 69% (199/288) of GISTs were detected as a result of symptoms, 21% were detected when the patients underwent surgery for other causes, and 10% were identified at autopsy.3
As the disease progresses, symptoms may increase in intensity and may include: 4,5
Patients with possible GIST often present at the emergency room with a suspicious large mass (abdominal swelling, upper GI bleeding).1
Initial workup in a patient with suspected GIST includes history and physical examination, endoscopy (for primary gastric mass), endoscopic ultrasound, liver function testing, and complete blood counts. Computed tomography (CT) and, occasionally, magnetic resonance imaging (MRI) are used to evaluate abdominal masses or nonspecific symptoms.1
Surgical assessment is often necessary to determine tumor resectability and possible metastatic disease.1
Because KIT(CD117) is expressed in nearly all GISTs, KIT staining is commonly used to make an accurate diagnosis and get the patient started on needed treatment. About 5% of GISTs, however, are KIT-negative. Diagnosis of these tumors is difficult and should be referred to a pathologist with the appropriate expertise.1