Scientists have documented an exceptional case of a person who has survived 12 tumours, at least five of them malignant, and all aggressive cancers disappeared relatively easily — opening up new avenues for early diagnosis and immunotherapy in cancer.
Featured in the study published in the journal Science Advances, the person (whose name has been withheld) first developed a tumour when almost still a baby, followed by others every few years.
In less than 40 years of life, the individual developed 12 tumours, at least five of them malignant, and each with a different type and in a different part of the body.
The person also has skin spots, microcephaly and other alterations.
According to Marcos Malumbres, head of the Cell Division and Cancer Group at the Spanish National Cancer Research Centre (CNIO), “we still don’t understand how this individual could have developed during the embryonic stage, nor could have overcome all these pathologies.”
Scientists discovered that 12 tumours are due to the fact that the patient inherited mutations in a gene essential for life from both parents.
The patient’s immune system naturally generates a strong anti-inflammatory response that fights the tumours.
The study also showed how a novel technique — single-cell analysis — can detect tumours at very early stages, or a predisposition to developing them.
According to Malumbres, the study of this unique case opens up “a way to detect cells with tumour potential well in advance of clinical tests and diagnostic imaging. It also provides a novel way to stimulate the immune response to a cancerous process.”
The researchers analysed the individual’s entire genome and found mutations in a gene called aMAD1L1′. This gene is essential in the process of cell division and proliferation.
One of the facts that most intrigued the research team was that the five aggressive cancers developed by the patient 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 tumours to disappear. We think that boosting the immune response of other patients would help them to halt the tumoural development”, explains Malumbres.
The discovery that the immune system is capable of unleashing a defensive response against cells with the wrong number of chromosomes is, according to this CNIO researcher, “one of the most important aspects of this study, which may open up new therapeutic options in the future”.
The single-cell analysis revealed — among other anomalies — that the blood sample contained several hundred chromosomally identical lymphocytes, thus coming from a single, rapidly proliferating cell.
The researchers said that single-cell analysis can be used to identify cells with tumour potential long before the appearance of clinical symptoms or markers observable in analytical tests.