None of us have any guarantee against developing cancer. What we do know is that a lot is connected with the way we live. And that the risk increases with age. But why some people get it, while others escape, is difficult to answer. Now a very special story is attracting attention. A 36-year-old woman has fought no less than 12 tumors in her life. Five of them were malignant and aggressive forms of cancer. And now researchers believe she may be a kind of key in the fight against the disease. The results of the research were recently presented in the journal Science Advances. Extremely rare The 36-year-old woman is not named. On the other hand, she has allowed Spanish researchers to study her genes. And as a result of this work, they found surprising answers. The woman is said to have a very rare mutation that makes her more susceptible to cancer. This mutation is found in both copies of the MAD1L1 gene, something that has never before been seen in humans. The MAD1L1 gene is responsible for a central machinery that helps align the chromosomes before a cell divides. It should not be unknown that mutations in this gene can occur, but this is the first time this has been seen in both copies. This picture shows a microscope image of a cancerous tumor in a woman’s breast. Photo: CCBIO Cells and chromosomes Normally, we humans have 23 pairs of chromosomes inside the nucleus of each cell. One comes from mother and the other from father. In this woman, the mutations have created cells with a different number of chromosomes. Among other things, the research showed that around 30-40 per cent of her blood cells had an abnormal number. In people with different numbers of chromosomes in their cells, additional diseases are often found: These can be delays in both physical and psychological development. But the woman in question in this case had no developmental disability. She must have lived a fairly normal life, if you ignore all the cancer cases. – We neither understand how she could have developed in her mother’s womb, nor how she has survived all the rounds of illness, says Marcos Malumbres. He is a researcher and molecular biologist. Now they want to understand how the woman’s immune system works. They believe there will be valuable answers there. Researchers at CNIO (Spanish National Cancer Research Center): Carolina Villarroya and Marcos Malumbres. Photo: Laura Lombardia / CNIO First time as a 2-year-old The 36-year-old woman got her first cancer at the age of two. At 15, she was diagnosed with cervical cancer. Five years later, a tumor in the pancreas was removed, and in the time since then she has survived several dangerous diagnoses. And one of the things that fascinates the researchers the most is that five aggressive forms of cancer disappeared relatively easily. They believe this is due to the woman’s unique immune system. – The constant production of altered cells has led to a lasting, defensive response against the cancer cells. This helps her body get rid of the tumors. Thus, the researchers believe that increasing the immune response in other patients may help to stop the development of tumors in an early phase. The fact that our immune system is able to trigger a defensive response against cells with the wrong number of chromosomes in them is one of the most important aspects of this study. It could open up new therapeutic options in the future, explains Malumbres. 70 percent of tumors in humans have cells with an abnormal number of chromosomes. In animals, plants and fungi, the chromosomes are shaped like rods. Some species have many chromosomes, others have few. The number differs from species to species and it has little to do with how complex the organism is. – An excellent example Trine B. Rounge is section leader and researcher at the Cancer Registry. Among other things, she examines biological samples from various biobanks to understand cancer development. Rounge finds both the history and the new research interesting. – This is an exciting article. Mutations that lead to loss of function in important genes can usually only be studied in model organisms such as mice. They rarely occur in humans. She believes this article is an excellent example of how you can learn a lot about mechanisms in both mitosis and cancer. Nevertheless, she believes that more is needed to find the solution. – Although this is very instructive, it is hardly the key to the “cancer riddle”. This mutation is far too rare for that, says Rounge to news. Can find cancer earlier The Spanish researchers themselves believe that the findings could have great potential in the treatment of the disease in the future. That this can open new ways to make an early diagnosis, as well as find a form of immunotherapy that will work to a greater extent. Using some form of analysis, it should be possible to detect cells that develop cancer at an early stage. This again means that the disease can be detected long before clinical symptoms can be seen via analytical tests. Cancer in Norway 2021 – some figures Number of new cancer cases in 2021: 17,314 women (of which 2,036 aged 20-49) 19,684 men (of which 1,196 aged 20-49) Most frequently occurring forms of cancer, number of new cases 2021 Prostate cancer: 5,188 Breast cancer: 4023 Lung cancer: 3499 Colon cancer: 3204 Skin cancer, non-melanoma: 3097 Deaths as a result of cancer 2020: Total: 10,981 deaths 5065 women 5916 men Most deaths by type of cancer 2020 Lung cancer: 2168 Colon and rectal cancer: 1524 Prostate cancer: 954 Pancreas 771 Breast cancer (women): 591 Source: Cancer register, cancer statistics 2021
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Woman (36) has fought 12 tumors – her genes surprise researchers – news Trøndelag
