Woman, 36, with ‘one-in-8billion’ genes has survived TWELVE tumors could hold key to cancer

A woman who has survived a dozen different tumors could hold the secret to curing cancer, scientists claim. 

The unnamed patient, 36, was diagnosed with her first mass when she was a toddler and a new growth has formed every couple of years in different parts of her body since.

Of her 12 tumors that doctors know about, at least five were cancerous — forming in her brain, cervix and colon. 

Researchers in Spain who are monitoring her condition say her immune system is ‘exceptional’ at shutting down cancer.

She is believed to be the only person in the world with  a genetic quirk that serves as a double-edged sword.

On one hand, they have a unnatural ability able to defeat cancerous growths. but on the other, it makes them extremely susceptible to tumors forming in the first place.

She possess two mutation on the MAD1L1 gene, which in normal circumstances should kill an embryo before it gets a chance to develop in utero.

The gene is crucial in the process of a cell splitting and proliferating and the mutations cause it to go haywire and start over replicating itself.

When the cell begins to split at a rate that is not necessary it can lead to tumorous growth which can often form into cancer. 

Details about the patient are scant but they have suffered at least 12 tumors — five of which were cancerous.

All are different types and appeared in different parts of the body.

They also suffers from skin spots and other visible alterations to their skin throughout their life, signs of cancerous growth.

Scientists discovered that they had received mutations to MAD1L1 from both their mother and father. 

Researchers are hopeful that they could use data gathered from them to identify the early stages of cancer in the future.

A team from the Spanish National Cancer Research Centre (CNIO) in Madrid published their case report on the person on Wednesday.

Scientists found that the person was more likely to develop tumors and cancers because of these mutations to the MAD1L1 gene.

While 12 tumors in less than 40 years of life is unprecedented, the person has a genetic profile so unique researchers said they had never seen it before.

They even said they could create a name for the condition they are suffering because it would be a named disease with only one known case.

‘We still don’t understand how this individual could have developed during the embryonic stage, nor could have overcome all these pathologies,’ Dr Marcus Malumbres, head of the cancer group at CNIO, said.

The genetic mutations to how the cell proliferates also lead to the patient developing tumors so easily.

Tumors form when damaged cells begin to multiply are a rate much faster than they should and form a mass. It can be malignant – cancerous – or benign.

This patient’s mutations on their genes that determine how they spread leads to more tumors growing.

The person’s immune system was uniquely able to fight off the tumors because of how often immune cells were able to replicate.

‘The constant production of altered cells has generated a chronic defensive response in the patient against these cells, and that helps the tumors to disappear,’ Dr Malumbres explained.

‘We think that boosting the immune response of other patients would help them to halt the tumoral development.’

Cells unleashed by the immune system for defense have an incorrect number of chromosomes – the typical person has 23 pairs – making them more effective as they are similar to the tumor cells.

Tumor cells also often have an abnormal number of chromosomes, researchers write. 

Scientists at CNIO said that this finding could be the key to solving the puzzle that is cancer.

Using single-cell analysis technology, which can analyze the genes of millions of them at once, researchers can identify where cancer risk may lie.

‘By analyzing thousands of these cells separately, one by one, we can study what is happening to each specific cell, and what the consequences of these changes are in the patient,’ Dr Carolina Villarroya-Beltri, CNIO researcher and first author of the study, said.

The technology can analyze cells en masse, quickly and accurately providing in depth medical information to doctors from across a patients body.

It is a very new technology that scientists are excited can be integrated into all kinds of care in the future. 

This kind of analysis could help doctors get ahead of cancer in a patient and treat it before it even develops by identifying which cells would eventually form tumors.

Analysis of this patient found that they were producing hundreds of identical cells called lymphocytes, white blood cells the immune system uses for cancer and other disease.

These cells were able to quickly defeat cancer in the woman. 

Scientists are hopeful that this ability to accurately identify cells related to cancer could be beneficial to treatment of the disease in the future.

In some patients, the kind of proliferation of these cells will often be the source of tumorous growth.