A woman who experienced 12 different types of tumours has surprised scientists, who carried out extensive research to understand why she is susceptible to cancer, according to Spanish newspaper El Pais. The 36-year-old woman, whose identity has not been revealed, was first treated for cancer at the age of two, and at the age of 15, she was diagnosed with cervical cancer, according to her case study published in Science Advances. As she turned 20, the woman had a salivary gland tumour surgically removed. A year later, she had further surgery to remove a low-grade sarcoma.
Till the time she reached her 30s, at least a dozen tumours were detected, including five that were malignant, the case study further said.
Her life history has surprised medical professionals and a global team, led by the Spanish National Cancer Research Centre, took her blood samples and started analysing the reason behind her condition.
Using the single-cell DNA sequencing, which helps in identifying mutations in the genes, the team of doctors discovered something strange - the woman had a strange king of mutation in both copies of MAD1L1 gene, which is so far unheard of in humans.
So far, scientists have found that animals like mice that had the mutation never survived birth. "It was very difficult to understand how this woman could survive with this mutation; There had to be something else that had helped her," Marcos Malumbres, head of the Cell Division and Cancer group at CNIO, who participated in the genetic studies of the patient and her family, told the Spanish news outlet.
The MAD1L1 gene holds a machinery that helps align chromosomes before the birth of a baby. But, the researchers observed that the woman's doubly mutated gene caused cell growth to go haywire, said the El Pais report.
But her susceptibility to cancer, caused by genetic instability, seems to be the answer to her survival. The researchers said that the woman's immune system is on continuous red alert. And the highly stimulated immune system favoured better identification and destruction of tumour cells.
"Her genetic defect ended up protecting her. She healed very well from all malignant tumors after surgery and treatments; partly thanks to her immune system," according to biochemist Carolina Villarroya, as reported by the news outlet.
The woman has not developed any tumours since 2014. She lives alone, has a job and leads a normal life.
But researchers say that her enhanced immune response will help improve cancer diagnosis and develop new treatments.
