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Our latest paper is out today in NEJM! Together with Sam Behjati, I explored the origins of bilateral neuroblastoma from somatic mutations. [1/6] https://www.nejm.org/doi/full/10.1056/NEJMoa2000962
Neuroblastoma is a common childhood cancer that can manifest as multiple tumours in both adrenal glands. Whether these come from the same ancestral clone, represent metastases or arise completely independently was unknown. [2/6]
By looking at the somatic mutations from both left and right tumour in bulk blood of the same patient, we saw that each tumour shared mutations with blood not found in the other. This means that the tumours diverged very early in embryogenesis, before gastrulation. [3/6]
![By looking at the somatic mutations from both left and right tumour in bulk blood of the same patient, we saw that each tumour shared mutations with blood not found in the other. This means that the tumours diverged very early in embryogenesis, before gastrulation. [3/6]](https://pbs.twimg.com/media/EmDSTfzXEAE0ltZ.png "By looking at the somatic mutations from both left and right tumour in bulk blood of the same patient, we saw that each tumour shared mutations with blood not found in the other. This means that the tumours diverged very early in embryogenesis, before gastrulation. [3/6]")
The left and right tumour arise independently, but they undergo remarkably parallel convergent events, mostly shaped by germline predisposition. For example, a second hit in a tumour suppressor by independent LOH events (Chr19), as well as a recurrent trisomy (Chr7). [4/6]
![The left and right tumour arise independently, but they undergo remarkably parallel convergent events, mostly shaped by germline predisposition. For example, a second hit in a tumour suppressor by independent LOH events (Chr19), as well as a recurrent trisomy (Chr7). [4/6]](https://pbs.twimg.com/media/EmDQIPdXgAAPApc.jpg "The left and right tumour arise independently, but they undergo remarkably parallel convergent events, mostly shaped by germline predisposition. For example, a second hit in a tumour suppressor by independent LOH events (Chr19), as well as a recurrent trisomy (Chr7). [4/6]")
The distinction between a set of independent tumours and aggressive, spreading tumours is clinically very important. Without mets, less intensive treatment can be considered, with fewer side effects. Genomics can clarify the origins of these cancers and how to tackle them [5/6]
But of course none of his work would have been possible without the support of the patients, their families, and many colleagues, especially Dr Sarah Farndon and Prof John Anderson. [6/6]
