G.I.S.T. Tumor

Different cancers have different risk factors. Some risk factors, such as smoking, may change. Others, such as a person’s age or family history, cannot be changed.
But having one risk factor, or even many does not mean that one person will get the disease. Like many people having the disease, they may have few or no known risk factors.
Currently, there are very few known risk factors for gastrointestinal stromal tumors (GISTs).

Age
These tumors may occur in people of any age, but are rare in people under the age of 40 and are more common in people aged 50 to 80 years old.

Genetic syndromes
Most GISTs are sporadic (not inherited) and have no clear cause. In rare cases, however, GISTs were found in several members of the same family. These family members have inherited a genetic mutation (change) that can lead to GISTs.

Primary GIST family syndrome:: This is a rare, inherited condition that leads to an increased risk of developing GISTs. People with this condition tend to develop GISTs at a younger age and are more likely to have more than one GIST. This syndrome is caused by an abnormal KIT gene that is passed from the parent to the child. This is the same gene that mutates (changes) in most sporadic forms of GISTs. People who inherited this mutated gene from one parent have it in all their cells, while people with sporadic GISTs only have it in cancer cells.
Also, a mutation in the PDGFRA gene causes this genetic syndrome. Mutations in the PDGFRA gene are present in approximately 5% to 10% of sporadic GISTs

Type 1 neurofibromatosis (von Recklinghausen‘s disease): This disease is caused by a mutation in the NF1 gene. This gene mutation can be inherited from a parent, but in some cases, it occurs before birth without being inherited.

People with this syndrome often have many benign (non-cancerous) tumors that form in the nerves, called neurinomas, starting at an early age. These tumors form under the skin, usually giving a brown patch on the skin (called café au lait spots). People with this condition are at higher risk for GIST, as well as some other types of cancer

Carney-Stratakis Syndrome: People with this rare inherited condition have an increased risk of developing GISTs (more often in the stomach), as well as nerve tumors called paragangliomas, which are more common in adolescents. They are also more likely to have more than one GIST. This syndrome is caused by a mutation in one of the genes of succinic dehydrogenase (SDH), which passes from parent to child.

Survival rates can give you an idea of ​​what percentage of people with the same type and stage of cancer are still alive for some time (usually 5 years) after diagnosis. They may not tell you how long you will live, but they can help you better understand how successful your treatment is.

Keep in mind that survival rates are estimates and are often based on previous results from a large number of people who have had a particular cancer, but cannot predict what will happen in the event of a particular person. These statistics can be confusing and can lead to more questions. Discuss with your doctor about how these numbers may apply to you, as he or she is familiar with your condition.

What is the 5-year relative survival rate?
A relative survival rate compares individuals with the same type and stage of the gastrointestinal stromal tumors (GIST) in individuals with the total population. For example, if the relative 5-year survival rate for a particular GIST stage is 90%, it means that people with this type of cancer are on average about 90% more likely to be alive, 5 years after diagnosis in comparison with people who don’t have cancer.

Where do these numbers come from?
The American Cancer Society is based on information from the SEER * database maintained by the National Cancer Institute (NCI) to provide survival statistics for various types of cancer.

The SEER database monitors the relative 5-year survival rates for GIST in the United States, based on the extent of the spread of cancer. The SEER database, however, does not group cancers from the stages of AJCC TNM (stage 1, stage 2, stage 3, etc.). Instead, it groups cancers in local, regional, and distant stages:

Local (localized): The cancer is confined to the organ where it started.
Peripheral (regional): Cancer has developed in nearby tissues or has spread to nearby lymph nodes.
Distant: Cancers have spread to distant parts of the body, such as the liver.

Relative 5-year survival rates for GIST
(Based on individuals diagnosed with GIST between 2008 and 2014.)

Understanding the Numbers
These numbers only apply to the cancer stage at first diagnosis. They do not apply later if cancer grows, spreads, or recurs after treatment.

Survival rates are grouped based on the extent of cancer, but also your age, overall health, cancer resection, the degree to which cancer responds to treatment, and other factors that may also affect your survival prospects.

People now diagnosed with GIST may have better prospects than these numbers. The treatments are improving over time and these numbers are based on people diagnosed and treated at least five years earlier.

The finding of mutations in the KIT or PDGFRA genes or not is a criterion for the selection of targeted therapy with TKI inhibitors.

The absence of SDHB protein expression (IHC) indicates a mutation in the SDH gene. GIST tumors with a mutation in the SDH gene occur more often in the stomach, in young patients, have metastatic potential, may involve lymph nodes and are characterized by slow growth. GIST tumors with a mutation in the SDH gene are more often resistant to treatment with Imatinib.

The tests are performed on the surgical specimen (paraffin cubes) or the biopsy material (paraffin cube) from which your histological examination was performed or on the aspiration material (FNAB, EBUS) from which your cytological examination was performed. In our fully integrated Laboratory, the pathologist selects the most appropriate & representative paraffin cube, ensuring that the most appropriate sample will be used for the tests. Qualitative and quantitative parameters are checked.

In case your sample is not already at Microdiagnostics archive, please contact us immediately so that we can arrange for its safe and rapid transport to our laboratory. You will also need to quickly and easily complete the Consent Form.

Most of the time, the sample material we are called upon to handle is small because it has resulted from a minimally invasive method (needle biopsy, fluid aspiration, paraffin block with minimal material).

In our laboratory, Pathologists check in a timely manner whether the material to be examined is sufficient. If so, then a management algorithm is followed, with the aim of achieving the performance of multiple tests on the material (Immunohistochemistry, real-time PCR, NGS) in order to fully check the molecular profile of your tumor (proteins, genes, histological Grading).

In this case, and once sample enrichment manipulations have been exhausted, we contact your clinician to discuss alternative approaches in order to obtain the desired information to select the optimal treatment for you. Some examples:

• • Performing an alternative test (e.g. Immunohistochemistry instead of PCR, or choosing Next Generation Sequencing (NGS))
  • Performing Immunohistochemistry instead of FISH (Fluorescent In Situ Hybridization) and tubulin
  • Possible blood sampling instead of tissue testing (liquid biopsy)
  • Possible option to take a new biopsy or puncture

Contact us at 2310 23 22 72 and we will immediately assist you in quickly transporting the sample to our laboratory.

By cash, bank card, bank deposit, or Online interbank deposit.

One of the primary concerns at Microdiagnostics is the protection of your personal data as well as the strict observance of the conditions for the protection of your genetic material and medical results.

In full compliance with the General Data Protection Regulation (GDPR), we ensure that any test conducted is done with your knowledge and consent and we do not communicate results over the phone.