A woman with a rare set of genetic mutations had cancer 5 times by the time she was 36

An annotated image of a dividing cell. The woman’s mutations, which have not been named, affect the process that divides chromosomes between cells when they divide. Cells depicted here are for illustrative purposes and are not human.Ed Reschke/Getty Images/Insider

  • One woman had cancer 5 times before she turned 36, the first time when she was two.

  • One study found that it has never seen mutations that were thought to be impossible to survive.

  • It shows the importance of genetic screening in families where cancer is common, said one of the study’s authors.

A woman who had been diagnosed with cancer 5 times in different parts of her body by the age of 36 has a series of mutations that had never been detected in medicine, a study has reported.

The findings, published Nov. 2 in the journal Science Advances, point to the importance of genetic testing in families who have few tumors, the study author said.

In total the woman, who has not been named, developed 12 different tumors, five of which were cancerous and seven of which were benign.

The woman had her first cancer at the age of two, a tumor that was treated with radiation and chemotherapy.

She developed new tumors every few years after that, including bone, neck, breast, skin and thyroid, some of which required surgery.

Five of those tumors turned into cancer, according to the study. But these were mysteriously cured much faster than expected, Marcos Maloubres, head of the Cell Division and Cancer Group at the Spanish National Cancer Research Center, told Insider.

“There aren’t many cases with this amount of tumors,” Maloubres said. While some patients develop multiple tumors, they usually come from a single cause — while the woman in the study developed 12 independent ones.

“These are tumors that originate from different cells in different tissues at different ages,” he noted.

An impossible mutation

Humans have two copies of most genes, one on each chromosome. This is a good protection mechanism because if one copy goes wrong, the other may be healthy, so the body may be able to compensate.

The patient in this case had mutations in both copies of a gene called MAD1L1. This gene is involved in breaking the copies of chromosomes evenly when the cells of the body divide.

An image shows a cell division.

An image shows the process of separating chromosomes between cells when they multiply.MedicalRF.com/Getty Images

This means that many cells in this patient’s body did not always have the correct number of chromosomes, causing destruction.

The researchers thought that these mutations could not survive

MAD1L1 is so central to how the body works that scientists previously thought it was impossible to survive with this set of mutations. Mice with these mutations would die as fetuses, according to a previous study.

“We still do not understand how this individual could have developed during the embryonic stage, nor could it have overcome all these pathologies,” Malombres said in an accompanying press release.

However, the woman seems to be living quite well with her condition.

“Most of the tumors were when she was very young, so now she’s pretty stable, she has a normal lifestyle. She works, now she lives on her own,” she said.

“So there’s nothing too dramatic about her, other than very frequent hospital visits,” he said.

The fact that this woman survived her five cancers piqued the interest of scientists.

It’s possible that by dealing with so many cells with an unusual number of chromosomes, the body mounted a “defense response” that helps the tumors disappear, Malombres said.

This means the immune system may have a secret tool to spot cells with unusual numbers of chromosomes that have only been detected before in mice and in Petri dishes, Malombres said.

“I think this is the first case where a patient has been reported to have it,” he said.

Genetic testing is key

Information about the patient’s mutation may also be helpful to her family in understanding their own medical issues, Malombres said.

The patient’s sister, aunt and grandmother had had miscarriages, Maloubres said. All of them probably carry one copy of the mutation.

“I think it’s really important for them to realize that it’s something that’s in their DNA and it’s going to be passed on to their children,” she said.

“To me, the most important takeaway from this is that you don’t have to wait until you have 12 tumors to be analyzed at the genetic level,” he said.

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