A revolutionary breakthrough in the fight against cancer - Cancer genomic profiling • Atlas general hospital

A revolutionary breakthrough in the fight against cancer – Cancer genomic profiling

04-11-2019

We have the opportunity to offer our patients a revolutionary solution in the fight against cancer – Comprehensive genomic profiling that analyzes 324 genes associated with tumor formation based on a tissue or blood sample. Comprehensive genomic profiling provides a complete insight into the characteristics of cancer, searching for several types of mutations. With comprehensive genomic profiling, it is possible to find multiple DNA mutations in one test. This allows all important mutations to be found immediately. By finding more mutations, there are greater possibilities for precise treatment- the patient can have more therapeutic possibilities, says Dr. Vladimir Vukov, oncologist.

Based on the knowledge and results of cancer profiling of each patient, the test report will show:

  • Drugs approved for a given type of cancer
  • Drugs approved for another type of cancer, which act on the found mutation
  • A list of clinical trials for which the patient may meet the inclusion criteria

At the Atlas General Hospital, it is possible to do “Liquid biopsy”, “Solid biopsy” and “Onco him”.

  1. Liquid biopsy: Venous blood is taken in a special tube. It is necessary to announce sampling at least one day in advance. Test results take 2-3 weeks.
  2. Solid biopsy: The analysis is done from a paraffin mold of a histopathological sample. Test results take 2-3 weeks.
  3. Onco him: This analysis is done from a paraffin mold. This analysis is recommended for patients with sarcoma and hematological tumors.

All three analyzes are recommended for patients with the third or fourth stage of the disease.

What is a genome and what is a gene?

The human body is made up of organs that are made up of tissues with a large number of cells. The cell is the smallest functional unit of the human body. Inside each cell is a nucleus. Each nucleus contains a copy of the genome. The genome consists of a large number of genes. Genes are made up of DNA (deoxyribonucleic acid) that contains all the information needed for the body to function normally.

What is genome

 

How do cells regenerate?

Cells are constantly regenerated because they have a limited lifespan. Cells are regenerated by the process of growth and division. During this process, the DNA inside the cell is copied, replicate so that each new cell contains a copy of the original DNA.

Cell division

What is a mutation?

Errors can occur during DNA copying. These errors are called mutations.

What is gene mutation

How do mutations occur?

Mutations can occur under the influence of external factors, for example due to smoking, alcohol consumption or exposure to radiation or chemicals. Infections caused by bacteria or viruses (HPV – human papilloma virus) can also lead to mutations. Mutations can be inherited. Such mutations are called germline mutations.

What is cancer?

Mutations can affect cell function and growth. DNA mutations, if not corrected, accumulate in cells over time. Such cells become cancer cells, which uncontrollably divide and grow and form a malignant tumor. When we talk about solid tumors, if the tumor cells reach the blood or lymph vessels, they are allowed to spread further throughout the body and thus secondary tumors, metastases, occur.

What is cancer

Types of cancer

There are different types of cancer depending on the place in the body where the primary tumor is located: breast cancer, liver cancer, lung cancer  …)

Chemotherapy

Until recently, different types of cancer were treated based on where the primary tumor was found. Cancers are most often treated with chemotherapy, which involves the use of moderately toxic drugs to destroy rapidly dividing cells.

Every cancer is different

Advances in medical research have allowed us to better understand the DNA mutations that cause cancer. For example, it is now known that, even if two people have the same type of cancer (breast cancer), mutations in their DNA can be different and therefore, these people may be treated differently. On the other hand, a person suffering from a completely different type of cancer-lung cancer may have the same mutation as a person with breast cancer. Then maybe two people will benefit from the same medicine.

The type and number of DNA mutations differ within the type of cancer, and that makes each person’s cancer different, unique. For example, lung cancer was thought to be one disease. However, today we know that there are many different mutations that lead to the development and progression of lung cancer.

Targeted therapy

If certain mutations are found in the DNA of cancer cells, your doctor may be able to recommend more specific treatment based on that information. The effect of drugs must be balanced between clinical benefits and side effects. A drug that has very serious side effects cannot be used even if it kills tumor cells extremely effectively. In certain cases, mutations may not be found. This is also valuable information for the doctor, important for planning the continuation of treatment.

targeted therapies

Methods of sampling (biopsy)

To find out which mutations exist on the DNA of your tumor cells, your doctor will perform a biopsy. A biopsy is done by taking a sample of solid tissue or blood.

Hotspot tests

One way to detect mutations in DNA is genomic testing. Hotspot tests are one example of genomic testing. Hotspot tests can only find predefined mutations in limited parts of the DNA of tumor cells. Mutations are always determined in advance-before the start of the test. So, if you don’t choose to look for a certain mutation in advance, you won’t even find it.

Comprehensive genomic tumor profiling

Comprehensive genomic tumor profiling provides complete insight into the characteristics of cancer, searching for several types of mutations in a wider area of ​​tumor DNA. With comprehensive genomic profiling, it is possible to find multiple DNA mutations in one test. This allows all important mutations to be found immediately. By finding more mutations, there are greater possibilities for precise treatment- the patient can have more therapeutic possibilities.

Comprehensive genomic tumor profiling

Therapeutic options

It is common for patients to be treated similarly depending on the location of their primary tumor. If the tumor is detected at an early stage and has not spread to other parts of the body, it is possible to remove it with surgery.

If it is not possible to perform surgery due to the site where the tumor appeared, or if tumor cells remain in the body after surgery, the doctor may apply radiation therapy to ensure that all tumor cells have been removed. The application of high-dose radiation therapy will harm healthier cells in the radiation zone.

Types of therapy in tumors

Doctors may recommend chemotherapy instead of or in combination with another treatment. Chemotherapeutics (cytostatics) are moderately toxic and work by attacking rapidly dividing cells, such as tumor cells.

Immunotherapy

Immunotherapy works by:

  • Stops or slows the growth of tumor cells
  • Stops or slows the growth of tumor cells that have spread to other parts of the body
  • Helps the patient’s immune system to destroy tumor cells

Tumor cells come into contact with specialized cells of the immune system, the so-called T cells – through immune control points. As a result, T cells can no longer recognize tumor cells and cannot fight them. Checkpoint inhibitors are specific antibodies that “attach” to immune checkpoints in tumor cells. This allows the immune system to reactivate, so it can recognize the tumor cell and fight it.

Tumors with a large number of mutations (which is called high tumor mutation load) are more prone to produce abnormal proteins and present them (exposed on their surface) as so-called neoantigenic.

Neoantigens can potentially be recognized and targeted by the immune system. So the tumor has a high TMB, which means that it is more likely to respond to immunotherapy. Comprehensive genomic tumor profiling can give you information about the TMB status of a tumor.

Tumor mutation burden

Mutational burden of TMB tumors is defined as the total number of mutations in the examined tumor genome. TMB shows the degree of tumor cell damage and is directly related to the number of neoantigens produced and presented on tumor cells. TMB status can be high, moderate or low.

What is obtained by genomic profiling?

Based on the latest findings and tumor profiling results of each patient, the test report will show:

  • Drugs approved for a given type of cancer
  • Drugs approved for another type of cancer that act on the mutation found
  • A list of clinical trials for which the patient may meet the inclusion criteria

The laboratory database is continuously updated thanks to new research, clinical trials and a growing number of genomic profiles of patients from clinical practice. This allows for continuous improvement of the report that the doctor receives as a result of the genomic profiling of the patient’s tumor.