Sep 26, 2023 – In a groundbreaking study, researchers from the Wellcome Sanger Institute, Great Ormond Street Hospital, and The Royal Free Hospital have unveiled the genetic code behind reninoma, an exceedingly rare form of kidney cancer. This discovery, published in Nature Communications, not only sheds light on the disease’s genetic origins but also opens doors to potential non-surgical treatments.
Reninoma ranks among the rarest human cancers, with only approximately 100 cases identified worldwide to date. While surgery has been the primary mode of treatment, the cancer can still spread, metastasize, or lead to severe hypertension, posing significant challenges to patients. Until now, there were no medication-based treatments available for reninoma.
Researchers pinpointed a specific genetic error in the cancer gene NOTCH1 as the driver of this rare cancer’s development. The investigation involved advanced genomic techniques, including whole-genome and single nuclear sequencing, and examined cancer samples from both a young adult and a child. These findings suggest that existing drugs targeting the NOTCH1 gene could offer a potential solution for treating reninoma, particularly in cases where surgery is not a viable option.
Taryn Treger, the study’s first author and The Little Princess Trust Fellow at the Wellcome Sanger Institute, commented, “Many cancerous tumors have already been deciphered with genomic technologies, but this is not so true in rare cancers, especially 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, added, “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, emphasized the significance of this discovery for rare cancer research, stating, “Rare cancers are exceedingly challenging to study, and patients with such tumors may, therefore, not benefit from cancer research. Here, we have a powerful example of cutting-edge science rewriting our understanding of an ultra-rare tumor type, reninoma, whilst delivering a finding that potentially has immediate clinical benefits for patients.”
Phil Brace, Chief Executive of The Little Princess Trust, expressed his support for the research, saying, “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.”