Prostate cancer can be defeated with a drug for breast cancer, and a drug for melanoma can be effective in the treatment of colorectal cancer. As long as it is checked what mutation caused cancer in a particular person. If Polish doctors could make diagnoses like their American colleagues, patients would avoid devastating treatment, such as chemotherapy administered almost at random. Many of them would save lives.
- Until recently, we classified tumors according to the organ they were attacking. Breast, lung, intestine and ovarian cancers were diagnosed. Today it is known that it is not the location, but mainly the presence of certain gene mutations, that makes a given drug effective or not
- Michael Negrin was diagnosed with bladder cancer. After four months of chemotherapy, he heard that he had a year to live. When it turned out that the mutation he had was in breast cancer, the patient was given a cure for… breast cancer. Three years have passed, he is still alive. It’s great. – Such cases show that it is worth following this path of medical development. With standard proceedings, Michael would not stand a chance – says Dr. Aleksander Sowa from Roche Polska
- Scientists from Foundation Medicine in Cambridge examine the submitted samples of tumors from patients from around the world, analyze their genome for mutations that caused cancer. Then all over the world they look for a drug that works for her. This allows patients to have personalized treatment
Michael Negrin, 67, was diagnosed with bladder cancer after blood appeared in his urine. After four months of aggressive chemotherapy to no avail, his doctor said: “You have a year to live in front of you.” However, she decided to send a sample of the tumor to Foundation Medicine. Research has shown that the kind of mutation Michael has in breast cancer. The man was treated as if he had… breast cancer. And it worked! Three years have passed. Michael Negrin is still alive and very well. – With the standard procedure, he wouldn’t have had a chance. Nobody would detect it, especially since there was no such case in Israel before – emphasizes Dr. Aleksander Sowa from Roche Polska.
A revolution in oncology
Until recently, we classified tumors according to the organ they were attacking. Breast, lung, intestine and ovarian cancers were diagnosed. Today it is known that it is not only the location, but above all the presence of certain gene mutations, that makes a given drug effective or not. Foundation Medicine in Cambridge examines the submitted tumor samples from patients from all over the world, while analyzing hundreds of genes that may be involved in the development of cancer. For each patient, it prepares an individual report presenting the available knowledge about the detected genomic changes and indications which drugs and why can be used in a specific case.
20-year-old American Corey Wood was diagnosed with lung cancer two weeks after running the half marathon. The girl was in great shape and had no symptoms of the disease. During a visit to an ophthalmologist, for which she only went for a contact lens prescription, she told the doctor that her eyes flashed. He commissioned a comprehensive study that detected tumors in the lung, lymph nodes and bone metastases. It was stage four lung cancer. The only treatment option seemed to be long and debilitating chemotherapy. Her doctor, however, sent tumor samples for genomic profiling studies. The cancer was found to have been caused by a mutation in the ROS1 genes, and there is a cure for it. It worked. Corey Wood’s lungs are clear today. Miracle? No, the achievements of personalized medicine.
- Check it out: Cancer test – a blood test is enough
Targeted therapy
The study of mutations present in the tumor tissue in a specific patient and the selection of the appropriate therapy for a given mutation – this is a revolutionary approach to cancer treatment. Dr. Mike Pellini, the head of the Foundation Medicine in Cambridge, Massachusetts, which does such research, says that thanks to them, the patient receives a safe drug in the necessary dose aimed at a specific goal. It takes approximately 14 days from sending the sample to sending the report. A small amount of neoplastic tissue is needed to perform the test. This may be tissue previously collected for histopathological examination. The test result includes information about genomic changes important for the treatment process, potential targeted therapies, and available clinical trials of drugs that may help. Such knowledge allows the doctor to choose the most effective treatment.
It all starts in the cell
Gene mutations in the cells of our body take place all the time. However, most of them do not affect your health. The body has various mechanisms to either repair these changes or simply eliminate malfunctioning cells. In some rare instances where this control is inadequate or disturbed, the malfunctioning cells that arise from genomic alteration begin to multiply and result in a tumor. Genomic changes that lead to neoplasia can be detected in hundreds of different genes, which is important in the diagnosis of neoplastic diseases. For example, lung cancer was once considered a single disease, but we now know that it can be classified into many different subtypes based on the mutations that drive its growth. Analyzing a specific patient’s tumor and determining what DNA changes cause his disease is key to diagnosis and optimal management of many types of cancer. This knowledge influences treatment decisions and can lead to personalized therapy.
Two weeks of research
Only a doctor can order a test at Foundation Medicine. Therefore, if the patient wants to do it, he must ask his doctor for help. The doctor downloads the necessary form from the website www.foundationone.pl. The courier picks up the sample and sends it to a laboratory in Cambridge, USA or Penzberg, Germany. After two weeks, the doctor will receive a test report by e-mail. The result is compiled by a group of experts – bioinformatics, molecular biologists, geneticists and clinicians working at Foundation Medicine. It describes the genomic changes detected in hundreds of studied genes and describes their biological significance. Lists therapies that can be effective in the detected genomic changes and their description. These can be drugs registered in the indication that the patient suffers from, but also in a completely different one. The doctor will also receive information about drugs currently being conducted around the world that are potentially effective for the patient. After analyzing the report, the oncologist, in consultation with the patient, may decide on further therapeutic procedures. And so it was with Michael Negrin, who was already in the terminal stage of cancer and yet managed to overcome it. – Cases such as that of Michael Negrin show that it is worth following this path in the development of medicine – adds Dr. Aleksander Sowa.