Woman who develops tumors that heal on their own is obsessed with science

The woman who is the most fortunate and the most fortunate in the world could have a very interesting key to finding new treatments for cancer. And the fact is that due to a very rare mutation, throughout his life, less than 40 years, he developed up to twelve tumorsof which five were malignant. But they were all destroyed by their own bodies without further complications.

His case was studied by a group of Spanish scientists belonging to National Cancer Research Center (CNIO)in a study published today in Scientific achievements.

In this study, they not only point to the possibility mimic your immune system develop new cancer immunotherapy. On its basis, they also determine a test that can help detect tumors at the earliest stages, with all the ensuing consequences for their treatment.

Embryo that went ahead against all odds

The patient in question had her first cancer when she was still a child. Since then, he has had eleven more. Although this is not the only health problem. also features microcephaly, skin spots and other changes.

Since it was first presented at CNIO, this was an interesting case for its researchers. But interest and surprise increased more and more as a new tumor was cured or something new was discovered about it.

And the fact is that, as it is logical, the first thing they studied was the presence of mutations, usually associated with a greater likelihood of developing cancer. But all seemed well with the genes involved. Instead, by analyzing his entire genome, they found a mutation in MAD1L1 gene which really caught his attention. This gene plays an important role in the process cell division and proliferation. Therefore, it is logical that a mutation in it can be associated with tumors, which are uncontrollably dividing cells.

The bottom line is that although this mutation was previously known, only people with one of the copies of the gene are known. We must remember that when a sperm fertilizes an egg, each cell provides a copy of every gene in the body. Namely; that for every gene we all have a copy from each of our biological parents. The mutation of this woman is so detrimental that it has been observed in animal models that if two copies are inherited, the embryo immediately ceases to develop. It is never born.

Therefore, assuming that the same thing happens in humans, this woman should not have been born. Nevertheless, he lived and lived for almost four decades with a relatively good quality of life despite health problems.

Judgment and salvation from cancer

This woman had many tumors throughout her life. However, it was his own the immune system the one who easily eliminated them. So despite his denunciation of cancer, he seems to have an important weapon against her as well.

It is not yet clear what the reason is. However, these scientists believe that due to the constant uncontrolled production of cells, your immune system has developed the ability to fight them chronically. In fact, there may actually have been more than a dozen tumors, but some of them may have been removed before they could find them.

The study of this chronic defense mechanism can be very useful in the treatment of other cancer patients. In fact, it is estimated 70% of human tumors have cells with an abnormal number of chromosomes. That is what is happening with this patient’s mutation.

Earliest Diagnosis

As is logical in this case, these scientists studied not only the patient in question. They also genetically studied his family. Thus, they were able to make sure that many of their relatives have deMAD1L1 mutation. Although only one copy of the gene.

But what is interesting is the technology they used for both themselves and the patient: single cell analysis. This is a procedure by which the genes of each of the blood cells (in this case they are focused on them) can be studied separately. As one of the authors of the study explained in a statement, Carolina Villarroya-Beltri“By analyzing thousands of these cells individually, one by one, you can study what happens to each individual cell and what the consequences of these changes are for the patient.”

Thus, they saw that the blood sample contained several hundred chromosomally identical lymphocytes. This means that they all originated from the same cell, which multiplied rapidly. Therefore, they had just discovered the tumor during its maturation. This mechanism can be very helpful in detecting cancer at its earliest stages and finding a cure as soon as possible.

All thanks to the fact that it can be safely called one of the rarest cases in medicine. Sometimes what we don’t initially understand can have some of the most popular answers in science. The main thing is to understand this.