In a study from Spanish National Cancer Research Center, scientists reported an exceptional cancer case.
This individual first developed a tumor as a baby, followed by others every few years.
In less than 40 years of life, the patient developed 12 tumors, at least five of them malignant. Each was of a different type and in a different part of the body.
The patient exhibited skin spots, microcephaly and other alterations.
The team says they still don’t understand how this individual could have developed during the embryonic stage, nor could have overcome all these pathologies.
When the patient first came to the CNIO’s Familial Cancer Clinical Unit, doctors took a blood sample to sequence the genes most frequently involved in hereditary cancer, but no alteration was detected in them.
The researchers then analyzed the individual’s entire genome and found mutations in a gene called MAD1L1.
This gene is essential in the process of cell division and proliferation.
The researchers analyzed the effect of the mutations detected and concluded that they cause alterations in the number of chromosomes in the cells—all cells in the human body have 23 pairs of chromosomes.
In animal models, it has been observed that when there are mutations in both copies of this gene—each coming from one parent—the embryo dies.
Surprisingly, the patient, in this case, has mutations in both copies but has survived, living as normal a life as can be expected of someone suffering from ill health.
One of the facts that most intrigued the research team was that the five aggressive cancers the patient developed disappeared relatively easily.
Their hypothesis is that the constant production of altered cells has generated a chronic defensive response in the patient against these cells, and that helps the tumors to disappear.
The researchers think that boosting the immune response of other patients would help them to halt tumoural development.
The discovery that the immune system is capable of unleashing a defensive response against cells with the wrong number of chromosomes is one of the most important aspects of this study.
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The study was conducted by Marcos Malumbres et al and published in Science Advances.
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