Genetic code of ultra rare form of kidney cancer studied by Sanger Institute scientists reveals treatment option

The genetic code of an ultra rare form of kidney cancer called reninoma, has been studied for the first time.

Researchers at the Wellcome Sanger Institute, Great Ormond Street Hospital and The Royal Free Hospital have revealed a new drug target that could be used to provide treatment in cases where surgery is not recommended.

To date, only 100 cases of reninoma have been reported worldwide, making it is among the rarest of tumours in humans.

It can usually be cured with surgery - which currently the only treatment option - but it can cause severe hypertension or can spread and develop into metastases.

Until now, it had been unknown what genetic error causes reninoma, but in a study published in Nature Communications and funded by The Little Princess Trust, the researchers explain how they found a specific error in the genetic code of a known cancer gene, NOTCH1, that is behind its development. Drugs targeting it could provide a potential treatment where surgery is not viable.

The scientists examined two cancer samples - from a young adult and a child – using whole genome and single nuclear sequencing.

Taryn Treger, first author of the study and The Little Princess Trust Fellow at the Wellcome Sanger Institute, said: “Many cancerous tumours have already been deciphered with genomic technologies, however, this is not so true in rare cancers, particularly those affecting children. Our work aims to fill that gap. This is the first time that we have identified the drivers for reninoma and we hope that our work continues to pave the way towards new therapies for childhood cancers.”

Dr Tanzina Chowdhury, co-lead author of the study, at Great Ormond Street Hospital, said: “Rare kidney cancers known as reninomas do not respond to conventional anti-cancer therapies. The only known treatment at the moment is surgery. Our study shows that, actually, there is a specific and well-studied gene that drives this rare cancer. If we use already known drugs that affect this gene, we might be able to treat it without the need for an invasive technique such as surgery.”

Dr Sam Behjati, co-lead author of the study, Wellcome senior research fellow at the Wellcome Sanger Institute and honorary consultant paediatric oncologist at Addenbrooke’s Hospital, said: “Rare cancers are exceedingly challenging to study, and patients with such tumours may therefore not benefit from cancer research. Here, we have a powerful example of cutting-edge science rewriting our understanding of an ultra rare tumour type, reninoma, whilst delivering a finding that potentially has immediate clinical benefits for patients.”

Phil Brace, chief executive of The Little Princess Trust, said: “We are committed to funding research searching for more effective treatments for all childhood cancers and so we are delighted to hear of the discoveries that have been made. We also want to help researchers find kinder solutions for young people and so we are very pleased to hear there may be ways to treat this rare kidney cancer without the need for surgery.”