A woman who survived a dozen different tumors may hold the secret to curing cancer, scientists say.
The unnamed 36-year-old patient was diagnosed with her first mass when she was a toddler and new growth has formed every two years in different parts of her body since.
Of her 12 tumors known to doctors, at least five were cancerous – forming in her brain, cervix and colon.
Spanish researchers monitoring his condition say his immune system is ‘exceptional’ at stopping cancer.
She is believed to be the only person in the world with a genetic quirk that serves as a double-edged sword.
On the one hand, she has an unnatural ability capable of defeating cancerous tumors. but on the other hand, it makes them extremely susceptible to tumors forming in the first place.
She has two mutations in the MAD1L1 gene, which under normal circumstances would kill an embryo before it has a chance to develop in utero.
The gene is crucial in the process of division and proliferation of a cell and mutations cause it to go haywire and start replicating excessively.
When the cell starts dividing at a rate that is not needed, it can lead to tumor growth which can often turn into cancer.
Dr Marcus Malumbres, head of the cancer group at Spain’s National Cancer Research Center (CNIO), said: “We still don’t understand how this individual was able to develop at the embryonic stage, or overcome all these pathologies. “
A 36-year-old woman has a rare mutation that causes her cells to replicate rapidly. As a result, she suffered a dozen tumors throughout her life. The same mutation that causes growth also protects it from it, as it leads to the rapid production of defense cells. (file photo)
The woman was examined at the CNIO Cancer Research Center in Madrid, Spain (pictured)
How a rare mutation makes a woman more vulnerable to cancer – while letting her fight it
A 36-year-old woman who was examined by doctors in Spain developed a dozen tumors, including at least five cancerous ones.
She has a rare pair of mutations on her MAD1L1 genes that would usually lead to the death of the embryo.
The gene is responsible for the division and proliferation of a cell. Mutations will impact how a person’s cells reproduce.
As a result of these mutations, the woman is more likely to experience unnecessary tissue growth, which can lead to tumor formation.
These tumors can often be cancerous, as this woman has experienced throughout her life – a lump was first detected when she was a toddler.
Interestingly, the same mutation that causes her to suffer from the disease so often also saves her from it.
His body is producing lymphocytes at a rapid rate, and the identical copies of immune cells come with mutations that make them very effective at fighting cancer.
Each of its lymphocytes has an abnormal number of chromosomes, which makes them more effective against tumor growth.
As a result, her body also fights cancers and tumors with ease.
A team from the CNIO in Madrid released their case report on the person on Wednesday.
Scientists found that women were more likely to develop tumors and cancers due to mutations in the MAD1L1 gene. His condition is so rare that it has no name.
The person also has skin spots, microcephaly – a condition where a baby’s head is much smaller than expected – and other physical conditions.
During the patient’s first visit to the CNIO’s family cancer clinical unit, a blood sample was taken to sequence the genes most frequently implicated in hereditary cancers, but no alterations were detected in them.
The researchers then analyzed the female’s entire genome and found mutations in a gene called MAD1L1.
This gene is essential in the process of cell division and proliferation.
Researchers analyzed the effect of mutations and concluded that they cause alterations in the number of chromosomes in cells – all cells in the human body – have 23 pairs of chromosomes.
Animal models have suggested that when there are mutations in both copies of this gene – each from one parent – the embryo dies.
To the amazement of the researchers, the person in this case has mutations in both copies but survived, leading as normal a life as one would expect of someone with medical conditions.
According to Miguel Urioste, the co-author of the study who led the CNIO’s familial cancer clinical unit until his retirement in January this year, said that no other such case had ever been describe.
He said: “Academically we can’t speak of a new syndrome because this is the description of a single case, but biologically it is.”
While other genes whose mutations alter the number of chromosomes in cells are known, the researchers say this case is different because of the aggressiveness, the percentage of aberrations it produces and the extreme susceptibility to a large number of different tumours.
The research team was intrigued by the fact that the five aggressive cancers developed by the patient disappeared relatively easily.
Their hypothesis is that “the constant production of altered cells has generated in the patient a chronic defensive response against these cells, which favors the disappearance of the tumors”.
“We believe that stimulating the immune response of other patients would help them stop tumor development,” explained Dr. Malumbres.
The researchers say one of the most important aspects of the study is the discovery that the immune system is able to mount a defensive response against cells with the wrong number of chromosomes.
The results could open up new treatment options in the future, they suggest.
The study is published in the journal Science Advances.