Gastrointestinal stromal tumor

Overview

A gastrointestinal stromal tumor (GIST) is a rare disease where a tumor forms in the gastrointestinal (GI) or digestive tract. This occurs when the special nerve cells in the wall of the GI tract develop abnormally and quickly spreads in the body. These special nerve cells function in the process that moves food through the body.

GIST can start anywhere near or in the GI tract, but most begin in the small intestine, and more than half begin in the stomach.

GISTs can range in size from small and benign, to large and malignant. While some individuals may not experience any symptoms, others may feel ill or experience pain or bleeding.

Symptoms

The symptoms associated with GISTs can vary depending on its size and location in the abdomen or other parts of the body. Sometimes, a small GIST may go unnoticed and is only discovered after tests for another illness. If a GIST develops, the symptoms may include:

• Severe abdominal pain or abdominal discomfort
• Blood in the stool or vomit
• Unusual mass in the abdomen
• Abdominal pain that worsens after eating
• Tiredness
• Nausea and Vomiting
• Loss of appetite
• Feeling satisfied after a small meal
• Weight loss
• Difficulty swallowing

GIST is a rare condition. Although it can happen to everyone, it is uncommon to people under 40 years of age. The majority of GISTs have an unknown cause. In very rare cases, it can be hereditary and can occasionally be seen in multiple family members.

Cause

The mutation of the cells lining of the digestive tract causes uncontrolled duplication resulting in forming a mass of cells called as GIST. This tumor then begins to invade and destroy the normal cells. Most GIST present mutation in the KIT oncogene result in abnormal cell division and tumor growth.

Risk factors

There are few potential risk factors that increases one’s risk of getting GIST:

• Age: People in their 50s or older have higher risk of developing tumors compared to people 40 years old and younger.
• Familial GIST syndrome: The genetic material inherited from a person’s parents is stored in genes found in cells. People who have inherited a gene mutation (change) are more likely to develop GIST. This mutation is typically caused by a KIT gene abnormality.
• Neurofibromatosis type 1 (von Recklinghausen disease): This is a genetic condition that affect mainly skin and nerve cells in the skin, brain, eyes and other part of the body. It occurs due to an alteration or defect in the NFI gene. This can occur before birth or inherited.
• Carney-Stratakis syndrome: Patients with this rare genetic condition have a higher risk of GIST and other nerve tumors.

It is recommended to seek medical advice if any of these or other comparable conditions are present in the family.  Although GIST can be hereditary, majority of the cases still arise from spontaneous cellular alterations.