Reacción a "Reactions to the case study of a person who has survived twelve tumours"

In this study, they sequenced the complete genome of a blood sample from a young patient who has suffered 12 tumours during her life, 5 of them malignant. The group has identified mutations in a gene called MAD1L1, involved, among other functions, in the control of correct cell division during cell proliferation. Alterations in its function or rare mutations in this gene have been previously described in prostate, colon and lung cancer. 

The patient in this study is a particular and apparently unique case for several reasons. One is that she has mutations in both copies of the gene, which in animal models is embryonic lethal. In addition, five of the aggressive cancers he suffered from were successfully treated and, although the reasons for this are not yet known, it is thought that this may be due, in part, to a response from his immune system.

In this study, the researchers conclude that the patient's mutations in MAD1L1 trigger a rare syndrome, not described to date, caused by chromosomal abnormalities and predisposing to different types of tumours.

Studies using sequencing of individual cells in blood samples show that alterations in the MAD1L1 gene and the associated aneuploidy could increase the inflammatory response and activate cells of the immune system, which could explain the successful treatment of the 5 malignant tumours suffered by this patient throughout her life.

This work highlights the importance of investigating this type of very particular cases and of approaching cancer with massive sequencing techniques. Although these are complex techniques, which require research personnel with a certain amount of experience, they can help us to understand the aetiology of a disease, ensure a correct diagnosis and understand the mechanisms involved, which can lead us to develop new therapies and therapeutic approaches not only for this patient, but also to treat other types of tumours and related diseases.