Gastrointestinal Stromal Tumor: Causes, Symptoms & Treatment

Gastrointestinal stromal tumors are a rare type of tumor disease of the digestive system. It often affects people of advanced age. On average, GIST (gastrointestinal stromal tumors) are diagnosed at age 60. The number of new cases of these malignant connective tissue tumors is comparatively low in Germany, with 800 to 1200 cases per year.

What is a gastrointestinal stromal tumor?

GIST (gastrointestinal stromal tumors) is a collective term for various forms of cancer that manifest themselves through the development of soft tissue or soft tissue tumors. In contrast to other carcinomas in the digestive tract, cancer cells form in the connective or supporting tissue. In carcinomas, the covering tissue, primarily the mucous membranes, of the corresponding organs is affected. This differentiation of the cancer form is important for the correct therapeutic treatment approach. Especially frequently the tumors are localized in the stomach, and small intestine, more rarely in the esophagus, colon and rectum. In very rare cases described tumors can also occur outside the abdominal cavity, they are “extragastrointestinal stromal tumors” (EGIST). Extremely few patients may also be affected by another special form, “gastrointestinal autonomic nerve tumors” (GANT).

Causes

Genetic mutations cause a change in the so-called “KIT receptor”. The receptor proteins no longer function correctly, are either permanently active or present in excessive amounts and emit false signals. This in turn leads to far too much cell formation and uncontrolled growth of cells that give rise to gastrointestinal tumors. GIST can be differentiated from other forms of cancer by detecting the mutated KIT receptors described above. However, there is also another form of mutation as a trigger for GIST. Here, the gene of the “PDGF receptor” is affected. Similar to the KIT receptor, the processes of cell growth and/or cell division take place here. By altering this genetic blueprint, uncontrolled proliferation of cells, the cause of cancer, also occurs here. “Wild-type GIST” is another rare form of disease in which no mutations are detected in either the KIT or PDGF receptors.

Symptoms, complaints, and signs

GIST disease usually manifests with diffuse signs such as abdominal pain and/or abdominal tenderness, bloating, or indigestion. If a tumor is bleeding internally, anemia and associated fatigue may also occur. Depending on the location of the malignant tumor, difficulty swallowing (esophagus), a premature feeling of fullness (stomach), black stools due to blood in the intestinal area, or weight loss due to deprivation of nutrients may also indicate GIST. Because it is a rarely occurring cancer, symptoms initially point to closer indications. A correct diagnosis is usually made late.

Diagnosis and progression

The nonspecific symptoms of this tumor disease make it difficult to make a definite and rapid diagnosis. The disease is often discovered by chance during other routine examinations such as an endoscopy or other surgical procedures. The severity of the disease can be interpreted based on the severity of the signs of the disease. Larger tumors or the formation of daughter tumors indicate a more severe course, as does a high cell division rate of the cancer cells. Only at this point do clear symptoms of the disease usually appear. As the tumors increase in size, abdominal hemorrhage may occur due to performation of the tumor or gastrointestinal obstruction (occlusion of organs). This life-threatening situation can be remedied only by emergency surgery, which then leads to the final diagnosis of the disease. In the presence of metastases, a complete cure is often almost impossible. Nevertheless, there is an option to contain the disease by drug treatment in combination with surgical interventions to such an extent that life with this disease is still possible. However, the complete chances of recovery are considered very positive if the diagnosis is made early.

Complications

Since this disease is a tumor disease, it is also afflicted with the usual symptoms and complications of a tumor.Without treatment, in most cases the tumor spreads to other regions of the body and can affect healthy tissue. Under certain circumstances, the patient’s life expectancy may be reduced. Those affected suffer from severe pain in the abdomen and lower abdomen and not infrequently a feeling of fullness. As a result, a small amount of food is consumed and underweight occurs. There are also general digestive disorders and severe fatigue. Patients appear fatigued and also no longer actively participate in life. Furthermore, swallowing difficulties may occur, which considerably reduce the quality of life. It is not uncommon for depression or other psychological upsets to develop. The daily life of the affected person is also made more difficult. The earlier the disease is diagnosed, the lower the risks of the disease. In this case, surgical intervention can lead to a positive course of the disease. As a rule, there are no further complications during the treatment itself. Whether life expectancy will be limited cannot be universally predicted.

When should you see a doctor?

If there is pain in the stomach, a recurrent feeling of fullness, or a feeling of pressure in the chest, a doctor should be consulted. If there are changes in digestion, nausea or vomiting, a doctor should be consulted. If there is discomfort in the abdomen, diarrhea or constipation, a doctor is needed. Heart palpitations, an increase in blood pressure, sweating or an inner restlessness should be clarified by a doctor. If food intake is reduced, steady weight loss sets in, or general weakness occurs, a physician should be consulted. In case of fatigue, loss of appetite, reduced performance or difficulty in swallowing, a visit to the doctor is necessary. If an increase in symptoms is noticed or if the existing pain continues to spread, a doctor should be consulted as soon as possible. If the affected person suffers from a diffuse feeling of illness, unexplained anxiety or a circulatory disorder, he or she should consult a doctor. From middle adulthood onwards, regular participation in cancer check-ups is generally recommended. Since early detection of gastrointestinal stromal tumor can take place in these check-ups, an annual check-up should be performed. If the affected person suffers from mood swings, irritability or apathy, a visit to the doctor is also advisable. If participation in social life declines, occupational or athletic activities are no longer performed as usual, or fatigue occurs, consultation with a physician is recommended.

Treatment and therapy

The earlier GIST is diagnosed, the better the chances of recovery for those affected. Surgical intervention can often completely remove the primary tumors that have developed. If no metastases have yet occurred, the chances of recovery are very good. If primary tumors occur in combination with other proliferated daughter tumors, treatment becomes correspondingly more difficult, and an increased relapse rate must also be expected. In this case, the size of the tumor and its localization as well as the cancer cell division rate are suspected as triggering factors for relapse or metastasis. Even with successful removal of a primary tumor, a return of the cancer can occur. The active ingredient imatinib can lead to growth retardation or even growth arrest of the tumors under certain genetic conditions of the affected patients. Drugs with this active ingredient do not change the causative mutation, but they can intervene in a regulatory way so that the uncontrolled cell growth can be stopped or reduced. Whether and at what time the drug can be used will require an individual consultation with a physician who specializes in GIST to decide.

Outlook and prognosis

In gastrointestinal stromal tumor, the prospect of palliation or cure is tied to the timing of discovery and treatability of the tumor. Without medical care, there is a reduction in average life expectancy. The cancer cells spread in the organism and lead to the premature death of the affected person. The prognosis when seeking treatment is tied to the stage of the disease.At an advanced stage of the disease, further metastases have often already formed at various locations in the organism. The cancer has spread and can no longer be adequately treated. In these cases, medical care is focused on alleviating existing symptoms and reducing pain. A particularly good prognosis is given to patients in whom the tumor was discovered in the early stages. In a surgical intervention and subsequent cancer therapy, the diseased tissue can often be completely removed. This increases the prospects of a subsequent cure. The difficulty with the disease lies in the time of diagnosis. In the early stages, it is usually an incidental finding. If symptoms occur, the tumor is usually already in an intermediate or advanced stage of disease. In addition, despite a cure, a tumor may develop again later in life.

Prevention

To date, no designated factors for the development of GIST are known. Only through the diagnosis, which often occurs at an older age, conclusions can be drawn about a disposition for older people. In addition, men are more likely to develop the disease than women. Of course, a healthy lifestyle is always advisable as a preventive measure, but the vague factors “age” and “gender” cannot be influenced here. Real risk factors are therefore not known.

Follow-up

The affected person usually has very few or no measures and options of aftercare available for this tumor. In this case, early detection and diagnosis must take place in the first place, so that further compilations and other complaints do not occur. The earlier the tumor is detected, the better is usually the further course. Self-healing cannot occur with this disease, so that the affected person is dependent on treatment in any case. Even after the successful removal of the tumor, the affected person is dependent on regular examinations by a doctor. In this way, further tumors or recurrences can be detected at an early stage and then also treated. In most cases, the tumor itself is removed by surgery. After such an operation, the patient should in any case rest and continue to take care of his body. In this regard, they should refrain from exertion or other stressful or physical activities. The help and care of the patient’s own family is also often necessary. In many cases, this tumor has a negative impact on the life expectancy of the affected person.

What you can do yourself

Gastrointestinal stromal tumor is a malignant cancer that the sufferer cannot treat himself. Close-meshed therapy and regular check-ups under specialist supervision are mandatory to prevent the disease from leading to the patient’s death. However, patients can support the positive course of therapy through their own behavior. The basic prerequisites are a positive attitude to life and the will to conquer the disease. In addition, there must be a trusting and open relationship with the treating physicians and a willingness to consistently apply and follow the measures demanded in the therapy. Outside of the purely medical therapy, the patient has the opportunity to maintain or improve the general condition of his body. The basis of these improvements is to renounce all habits that additionally weaken the body or drain its energy. First and foremost, this involves abstaining from addictive substances such as alcohol and nicotine, but also caffeine and unhealthy foods to a greater extent. If the body is no longer burdened by these things, more energy remains for the healing process. Strengthening the cardiovascular system and general fitness is also an important point. Sufferers should incorporate a light but regular sports or exercise program into their daily routine, preferably in consultation with their doctor or a physiotherapist. A healthy lifestyle is conducive to healing.