Woman with rare genetic mutations had cancer 5 times at age 36

Woman with rare genetic mutations had cancer 5 times at age 36
  • A woman had cancer 5 times before she was 36, the first time when she was two years old.
  • One study found that it had never before seen mutations that were thought to be unsurvivable.
  • It shows the importance of genetic testing in families where cancer is common, one study author said.

A woman who was diagnosed with cancer 5 times in different parts of her body at the age of 36 has a set of mutations never before detected in medicine, one study reported.

The findings, published in the peer-reviewed journal Science Advances on November 2show the importance of genetic testing in families with some tumors, as the study’s author said.

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

The woman had her first cancer at the age of two, a tumor in which she was treated with radiotherapy and chemotherapy.

She developed new tumors every few years after that, including in her bones, cervix, breasts, skin, and thyroid gland, some of which required surgery.

Five of those tumors turned into cancer, according to the study. But these mysteriously healed much faster than expected, Marcos Malumbres, head of the Cell Division and Cancer Group at Spain’s National Cancer Research Center, told Insider.

“There are not many cases with this number of tumors,” said Malumbres. While some patients develop multiple tumors, they usually stem from a single cause, while the woman in the study developed 12 separate tumors.

“These are tumors that come 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 safeguard mechanism because if one copy goes bad, the other might be healthy, so the body may be able to compensate.

The patient in this case had mutations in both copies of a gene named MAD1L1. This gene is involved in the uniform division of copies of chromosomes when cells in the body divide.

An illustration shows a cell dividing.

An illustration shows the process of dividing chromosomes between cells as they multiply.

MedicalRF.com/Getty Images



That means many cells in this patient’s body didn’t always have the right number of chromosomes, which wreaked havoc.

The researchers thought that these mutations could not survive.

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

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

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

“Most of the tumors were when he was very young, so now he is quite stable, he has a normal lifestyle. She works, now she lives alone,” she said.

“So there’s nothing very dramatic about it, apart from the frequent visits to the hospital,” he said.

That this woman survived all five of her cancers really intrigued scientists.

It is possible that faced with so many cells with an unusual number of chromosomes, the body triggered a “defensive response” that helps the tumors to disappear, Malumbres said.

This means the immune system might have a secret tool for detecting cells with unusual chromosome numbers that had only previously been detected in mice and petri dishes, Malumbres said.

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

Genetic testing is key

Information about the patient’s mutation can also be helpful in helping her family understand their own medical issues, Malumbres said.

The patient’s sister, aunt and grandmother have all had miscarriages, Malumbres said. It is likely that all of them carry one copy of the mutation.

“I think it’s very important to realize that this is something that is in your DNA and will be passed down to your children,” he said.

“For me, the most important takeaway from that is that you don’t have to wait until you have 12 tumors to test them at the genetic level,” he said. “

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