Gastroinestinal Stromal Tumors Are Caused by Genetic Mutations

For most people, when they hear of tumors, they assume that they start on one of the major organs or aspects of the body. This isn’t always the truth.

Tumors can grow in other parts of the body as well. It’s possible for tumors to start in the muscles, fat, nerves, blood vessels, tendons and joint lining. These are known as soft tissue sarcomas. They are rather rare. 

A specific type of soft tissue sarcoma is the Gastrointestinal Stromal Tumor (GIST). These tumors are difficult to find and difficult to diagnose in many cases. While most soft tissue tumors end up in the arms, legs or abdomen, gastrointestinal stromal tumors begin throughout the digestive system. GISTs are rather rare. There are usually only around 5000 cases discovered during a year. These tumors can be either malignant (cancerous) or benign (non-cancerous). Since they are rare, information about them can be sparse. Take this opportunity to learn more about GISTs. 

How it Works: Gastrointestinal Stromal Tumors

GISTs can occur throughout the entire digestive tract. The most common location is the stomach, but the small intestine is also common. GISTs actually begin in nerve cells. These nerve cells are located in the digestive tract. A genetic mutation occurs in specific genes responsible for GISTs. These are usually the KIT gene and the PDGFRA gene. 

There are several symptoms that can occur. These symptoms usually only show when the tumors are rather large. Smaller tumors can be asymptomatic and only discovered when looking for other medical conditions or issues. When symptoms do appear, they can include blood in vomit or blood in stool. This is an immediate sign that medical attention should be sought. It’s also possible to feel abdominal pain. A physical growth can sometimes be felt in the abdomen. Anemia may occur if a tumor is slowly bleeding. Some people lose their appetite or suffer from weight loss. Difficulty swallowing is another symptom. 

GISTs don’t always need treatment. If they are on the smaller size and not causing symptoms, it’s likely that a wait and watch approach is the way to go. Surgery can be an option if they are larger. However, there’s a time when surgery isn’t possible. If a GIST grows too large, it can potentially involved too many different tissues and organs in the area. This is also the case if it’s a metastatic GIST and the cancer has spread to other areas. GIST therapy can also involve targeted drug therapy. These work by using drugs to target weaknesses in the cancer cells. In this case, they target an enzyme that can help the cancer grow. 

Frequently Asked Questions

By now, it’s likely you may have more questions about GISTs, 

Q: How are GISTs diagnosed? 

A: There are several methods that can help determine if you have a GIST. These tests include an upper endoscopy, CT scan, endoscopic ultrasound and fine-needle aspiration biopsy.

Q: Can the risk of GISTs be passed down from parents? 

A: Unlike many gene mutations, it appears that the mutated genes that can cause a GIST are caused through life event, rather than passed down. However, there are some rare cases where the gene mutation can be inherited. 

Q: Are GISTs really that rare?

A: While around 5000 cases are diagnosed each year, it’s possible that there are many more. The lack of symptoms in many cases may mean that undiagnosed cases are ongoing. 

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