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gastrointestinal stromal tumor

As a type of soft tissue sarcoma, gastrointestinal stromal tumors (GISTs) usually develop in the stomach or small intestine. It is believed that these tumors originate from specialized cells called interstitial cells of Cajal, which regulate food flow in the digestive system.

Causes

Despite not knowing the exact cause of GISTs, most cases are associated with mutations in the KIT or PDGFRA genes, which cause uncontrolled cell growth. Genetic syndromes such as neurofibromatosis type 1 (NF1) or Carney triad may increase the risk of developing GISTs in some individuals.

Symptoms

Symptoms of gastrointestinal stromal tumors can vary depending on their size, location, and growth rate.

  • Pain in the abdomen, often near the tumor site, that is dull or cramp-like.

  • Bleeding in the gastrointestinal tract can appear as dark, tarry stools or bloody vomit.

  • Chronic bleeding causes anemia, a condition characterized by fatigue, weakness, and shortness of breath.

  • An abdominal mass is a palpable mass or swelling in the abdomen, especially when the tumor is large.

  • Symptoms of obstruction or compression of the digestive tract include nausea, vomiting, and early satiety (feeling full after eating small amounts).

  • In advanced cases, unintentional weight loss may occur.

Diagnosis

Imaging studies, biopsy, and molecular testing are typically used to diagnose gastrointestinal stromal tumors:

  • For visualizing the tumor and assessing its size, location, and extent, computed tomography (CT) scans, magnetic resonance imaging (MRI), or endoscopic ultrasound (EUS) may be used.

  • To confirm the diagnosis and determine the characteristics of the tumor, a tissue sample (biopsy) may be obtained through endoscopy or fine needle aspiration (FNA).

  • Tumor tissue can be analyzed for specific genetic mutations (such as KIT or PDGFRA mutations) to guide treatment decisions.

Treatment

Tumor size, location, extent, and genetic mutations all affect the treatment of gastrointestinal stromal tumors:

  • The primary treatment for localized GISTs is surgical resection, which involves removing the tumor with negative margins (complete excision).

  • Tyrosine kinase inhibitors (TKIs) such as imatinib (Gleevec), sunitinib (Sutent), or regorafenib (Stivarga) target specific molecular pathways and inhibit tumor growth when used adjuvantly or in cases of unresectable or metastatic GISTs.

  • External beam radiation therapy may be considered as a palliative treatment for symptom relief or as an adjuvant treatment.

  • A clinical trial may be an option for some patients, especially those with advanced or refractory diseases.

Prevention

Genetic mutations are the most common cause of gastrointestinal stromal tumors, which means there are no specific prevention strategies. Early detection and prompt treatment may, however, improve outcomes and reduce complications. In order to detect and manage GISTs early, regular medical check-ups may be beneficial for individuals who have known risk factors or genetic syndromes associated with them.

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