Scientists find genetic code behind rare kidney cancer

There are around 100 cases of the kidney cancer called reninoma reported to date worldwide, and it is amongst the rarest of tumours in humans. There is no existing medical treatment and management involves surgery alone

Scientists have cracked the genetic code of rare kidney cancer called reninoma, providing a possible alternative solution to surgery. There are around 100 cases of reninoma reported to date worldwide, and it is amongst the rarest of tumours in humans.

Although it can usually be cured with surgery, it can cause severe hypertension or it can spread and develop into metastases. There is no existing medical treatment for reninoma and management involves surgery alone. Until now, it had been unknown what genetic error causes reninoma. Researchers at the Wellcome Sanger Institute, Great Ormond Street Hospital, and The Royal Free Hospital found that there is a specific error in the genetic code of a known cancer gene, NOTCH1, that is behind the development of this rare cancer.

For the study, published in Nature Communications journal, researchers examined two cancer samples from a young adult and a child with advanced genomic techniques, known as whole genome and single nuclear sequencing. They also found that the use of existing drugs targeting this specific gene is a possible solution to treating reninoma for patients where surgery is not a viable option.

"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," said Dr Tanzina Chowdhury, co-lead author of the study, at Great Ormond Street Hospital.

"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," Chowdhury added. The study is the first to identify the drivers for reninoma and the work may pave the way towards new therapies for childhood cancers, the researchers said. It also revealed a new drug target that could serve as an alternative treatment if surgery is not recommended.

"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," said Dr Sam Behjati, co-lead author of the study.

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