Unique genes enable women with frequent cancer to recover

2022-11-08

A Spanish woman who is highly susceptible to cancer has recently attracted attention. This woman had suffered from 12 different tumors, 5 of which were malignant, but after treatment, she "completely recovered"! Scientists from Spain's National Cancer Research Center (CNIO) published a research paper in the latest issue of Progress in Science, saying that they found the reason why the patient was so prone to cancer: she carried a group of gene mutations that humans had never seen before. The researchers said that this "exceptional" case would help improve the early diagnosis of cancer and develop new therapies. The researchers found that the 36 year old woman carried copies of two gene mutations called MAD1L1, which came from her parents, encoding the protein MAD1, which plays a crucial role in cell division. The research shows that when the experimental mouse carries two MAD1L1 mutant copies, it will die in the womb, but this woman lives to adulthood, but is very vulnerable to cancer all her life. She was diagnosed with cancer for the first time when she was two years old, and the last time when she was 28 years old. She was diagnosed with some type of tumor almost every few years, distributed in different parts of the body. In addition, after analyzing the patient's blood, researchers found that as many as 40% of her blood cells had too many or too few chromosomes. This defect, known as genetic instability, is a sign of cancer. The patient's immune system will make a broad inflammatory response to this threat. Although she has suffered from cancer many times, this female patient can be easily cured each time. Since her last tumor was removed in 2014, there has been no recurrence. Researchers believe that this may be due to her unique immune system. The first author of the paper, CNIO biochemist Carolina Villaloa, explained that although the above mutation caused this woman to suffer from cancer more frequently, her immune system was greatly stimulated, which was beneficial to better identify and destroy tumor cells. "Her genetic defect finally protected her. After surgery and treatment, all her malignant tumors were healed.". The team hopes to further study the woman's immune defense system to see if it can be found in other cancer patients. They believe that enhancing the immune response of patients will help prevent the deterioration of tumors. This therapy will be similar to the existing immunotherapy - aimed at enhancing the ability of the immune system to target and kill cancer cells. The editor in chief simply did not know whether to say that the Spanish lady was unlucky or that she was lucky. She was unlucky enough to have 12 kinds of tumors, and she had been dealing with various cancers since she was two years old; However, she carried such a rare gene mutation, but she was lucky to be born successfully and won all the battles with malignant tumors many times. Genetic defects make her susceptible to cancer, and at the same time, genetic defects protect her. Of course, for medical researchers, it is indeed a kind of luck to have such a living case. Any exception has hidden secrets. Finding out such secrets may benefit more cancer patients. (Outlook New Times)

Edit:qihang    Responsible editor:xinglan

Source:http://digitalpaper.stdaily.com/http_www.kjrb.com/kjrb/html/2022-11/08/content_544073.htm?div=-1

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