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Whole Genome Sequencing helps doctors treat Daniel’s rare cancer

Sport-loving schoolboy Daniel is back on the football pitch following precision treatment of a rare kidney tumour

In 2017 when Daniel was just 10 years old he was diagnosed with a rare kidney tumour in Addenbrooke’s Hospital after numerous trips to A&E, ultrasounds and bed rest after discovering blood in his urine. Following an operation to remove his left kidney, Daniel underwent a gruelling year of chemotherapy and three weeks of radiotherapy.

His initial diagnosis was extremely difficult to determine as this type of tumour had not been seen before. Through a microscope it looked like an adult renal cell carcinoma yet it responded to chemotherapy more like another cancer, called a Wilms’ tumour. Daniel’s parents agreed for him to participate in the 100K Genome Project in June 2020 which offered the opportunity for an in-depth look at his genomic profile, known as Whole Genome Sequencing (WGS).

By highlighting variations in Daniel’s DNA, the WGS findings helped to establish his diagnosis with certainty. It confirmed that Daniel’s cancer was similar to Wilms’ tumour, a type of kidney cancer which is curable with chemotherapy and radiotherapy in many children.

Daniel playing basketball
Daniel back enjoying his sports

Daniel’s mother Catherine commented:

“We are so grateful that Daniel was offered Whole Genome Sequencing. It gave us some definitive results which hugely helped us to come to terms with his illness. Before we had these results, we felt in limbo just not understanding how, why or what illness we were up against.”

“Daniel is now back to playing football, basketball and other sports and we are truly grateful for all the wonderful staff at Addenbrooke’s from consultants to the specialist nurses and all the other medical workers and scientists who have helped us along the way over the past few years. We are eternally grateful to them all.”

Quote from Dr Amos Burke, Consultant Paediatric Oncologist, Cambridge University Hospitals NHS Foundation Trust:

“Obtaining an accurate diagnosis is very important to ensure the most appropriate treatment plan is put in place. Whole genome sequencing confirmed that the treatment chosen for Daniel was indeed the best available.

“Thankfully Daniel responded well to this treatment and it is great to see that Daniel is enjoying life and his many sports again.”