For 36 years, a woman had 12 tumors: scientists found a mutation in her that had never been seen before - ForumDaily
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For 36 years, the woman had 12 tumors: scientists found a mutation in her that had never been seen before

The woman before her 40th birthday developed 12 tumors - seven benign and five cancerous. Medical researchers have recently figured out why she's so prone to abnormal tumor growth: she carries a set of genetic mutations never before seen in humans. LiveScience.

Photo: IStock

The woman, now 36, carries two mutant copies of the MAD1L1 gene, one from each parent, according to a new report published November 2 in the journal Science Advances. The gene codes for a protein called MAD1, which plays a critical role in cell division.

When one cell divides into two, it first duplicates all of its DNA and then packages the genetic material into compact structures called chromosomes. The chromosomes then neatly line up along the midline of the cell and divide in half; thus, when a mother cell divides in two, half of the DNA is in each daughter cell. The MAD1 protein helps ensure proper chromosome alignment during this process, so all cells receive the usual 23 pairs of chromosomes, according to UniProt, a protein sequence and functional information database.

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When laboratory mice carry two mutant copies of MAD1L1, the rodents die in utero. However, in the case of the woman, she lived to adulthood, but was extremely susceptible to tumors throughout her life. She developed her first cancer at age 2 and her last at 28.

“It was very difficult to understand how this woman could have survived with this mutation,” says co-author Marcos Malumbres, head of the cell department and cancer group at the Spanish National Center for Cancer Research (CNIO) in Madrid. “There must be something else that helped her avoid death,” Malumbres said.

The patient's blood test showed that 30% to 40% of her circulating blood cells carry an abnormal number of chromosomes - either too many or too few.

Other genetic mutations, in addition to those affecting MAD1L1, can cause people to have cells with different numbers of chromosomes. The researchers noted in their report that in some patients, but not all, it increases the risk of developing cancer. According to the National Cancer Institute, about 90% of cancers contain cells with extra or missing chromosomes; however, scientists are still studying exactly how this genetic trait contributes to the growth and spread of cancer.

Despite having had cancer five times, the patient received relatively mild treatment each time she developed the disease. And since her last tumor was removed in 2014, the patient has not developed them again.

Medical researchers believe this may be due to her unique immune system.

In their analysis, the team found that the presence of cells with an abnormal number of chromosomes triggers a protective immune response in cells with a typical 23 pairs. These immune cells cause inflammation throughout a woman's body, and by releasing certain molecules and inflammatory substances, the cells can help the immune system find and destroy cancerous tumors when they arise. This may explain why the patient responded well to cancer treatments, including chemotherapy, radiation therapy and surgery, the team theorizes.

"The constant production of altered cells has elicited a chronic defensive response in the patient against these cells, and this is helping the tumors to disappear," Malumbres said in a statement. The team hopes to further study the woman's immune defenses to see if they can replicate it in other cancer patients.

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“We think that boosting the immune response of other patients will help them stop the tumor from growing,” Malumbres said. At least conceptually, such a treatment would be similar to existing immunotherapies designed to increase the immune system's ability to target and kill cancer cells.

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