Home Health Woman Diagnosed With 12 Tumors In 36 Years. How Did She Survive?

Woman Diagnosed With 12 Tumors In 36 Years. How Did She Survive?

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Woman Diagnosed With 12 Tumors In 36 Years. How Did She Survive?

In a rare case, a girl has had 12 tumors in only 36 years of her life. A study has shown she has a singular genetic mutation that has never been observed in humans before.

Within the study, published within the journal Science Advances on Wednesday, researchers found that the lady has two mutant copies of a gene called MAD1L1, one from each parent. And this has by some means made her more vulnerable to tumors. The gene codes for a protein, called MAD1, which plays a crucial role in cell division.

The girl, now 36 years old, has had seven benign and five cancerous tumors so far. She was first diagnosed with a cancerous tumor on the age of two and the last one was on the age of 28. The girl has been tumor-free since her last tumor was removed in 2014.

Scientists were baffled at how the lady survived 12 tumors, while lab mice with the identical genetic mutations died within the womb.

“It was very obscure how this woman could survive with this mutation,” co-senior creator Marcos Malumbres, head of the Cell Division and Cancer Group on the Spanish National Cancer Research Center (CNIO) in Madrid, told Spanish newspaper El País.

“There needed to be something else that had helped her escape [death],” Malumbres said, in accordance with a translation by Live Science.

The MAD1 protein plays a task in ensuring the chromosomes align properly during cell division, in order that each cell finally ends up with the same old 23 pairs of chromosomes, in accordance with UniProt, a database of protein sequence and functional information.

Blood evaluation of the patient showed the lady had an abnormal variety of chromosomes in her blood cells – either too many or too few. This was observed in 30-40% of the circulating blood cells.

Fortunately, despite such hardships, the lady was in a position to get better relatively easily every time she developed cancer. Medical researchers think the lady was in a position to do that due to her immune system.

A more in-depth evaluation revealed the cells with abnormal numbers of chromosomes kickstarted a defensive immune response in the conventional ones.Inflammation attributable to immune cells can have helped the body spot and destroy cancerous tumors after they developed. The research team believes this may be the rationale why the patient responded well to cancer treatments, including chemotherapy, radiotherapy and surgeries.

“The constant production of altered cells has generated a chronic defensive response within the patient against these cells, and that helps the tumors to vanish,” Malumbres said in a statement. “We expect that boosting the immune response of other patients would help them to halt the tumoural development.”

The researchers now want to review the lady’s immune defenses to see in the event that they could find an answer to assist other cancer patients.

 

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