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

An image of multiplying fish cells is annotated with arrows that point to dividing chromosomes with text

An annotated image of a dividing cell. The Unnamed Woman mutations affect the process that divides chromosomes between cells when they divide. Cells shown here for illustrative purposes and are not human.Ed Reschke/Getty Images/Insider

  • A woman had 5 cancers before she was 36, the first time when she was 2 years old.

  • A study revealed that she had never-before-seen mutations that were thought to be impossible to survive.

  • This shows the importance of genetic testing in families where cancer is common, said a study author.

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, a study has found.

The findings, published in the peer-reviewed journal Science Advances Nov. 2, show the importance of getting genetic testing in families who have a few tumors, as the study author said.

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

The woman had her first cancer when she was two years old, a tumor that was treated with radiotherapy and chemotherapy.

She developed new tumors every few years after that, including in the bones, cervix, breast, 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 Center for Cancer Research, told Insider.

“There aren’t many cases with this amount of tumors,” Malumbres said. While some patients develop multiple tumours, they usually stem from a single cause – while the woman in the study developed 12 unrelated ones.

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

An impossible change

Humans have two copies of most genes, one on each chromosome. This is a good backup mechanism because if one copy goes bad, 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 the uniform division of copies of chromosomes when cells in the body divide.

An illustration shows cell division.

An illustration shows the process of separating chromosomes between cells as they multiply.MedicalRF.com/GettyImages

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

Researchers thought these mutations couldn’t survive

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

“We still don’t understand how this individual was able to develop in the embryonic stage, or overcome all these pathologies,” Malumbres said in a press release.

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

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

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

That this woman survived her five cancers really intrigued scientists.

It’s possible that when faced with so many cells with an unusual number of chromosomes, the body stimulated a “defensive response” that helps tumors disappear, Malumbres said.

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

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

Genetic testing is essential

Information about the patient’s mutation may also be helpful for their family to understand their own medical issues, Malumbres said.

The patient’s sister, aunt and grandmother all had miscarriages, Malumbres said. All probably carry a copy of the mutation.

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

“For me, the most important conclusion 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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