Sara and Michael Bell, from St Neots in Cambridgeshire, received concerning news about their baby Oliver just a few days before his birth. An ultrasound showed a large tumour on his right leg measuring approximately 6cm in length.
After his birth, blood tests were taken and within two days the family were referred to the paediatric oncology team at Cambridge University Hospitals NHS Foundation Trust (CUH).
Sara explained: “It was really scary. At Addenbrooke’s more blood tests were taken and we were preparing for the worst. Then a consultant offered us whole genome sequencing. Dr Behjati explained that results from this test, which just needed another sample of Oliver’s blood, would give us the most amount of detail possible on what we were dealing with.”
Dr Sam Behjati is a consultant paediatric oncologist at CUH and group leader at the Wellcome Sanger Institute. He said: “Under the microscope, Oliver’s tumour initially looked like a type of sarcoma called infantile fibrosarcoma which we typically treat with surgery, chemotherapy or other specific drugs. “Although initially Oliver’s seemed to be an infantile fibrosarcoma, standard molecular test did not confirm this diagnosis. “Whole genome sequencing solved the mystery. It highlighted that Oliver’s tumour had a particular mutation which completely changed the diagnosis of Oliver’s tumour from cancer into a benign tumour type called myofibroma. “This revised diagnosis could only have been achieved with whole genome sequencing. It meant we were able to change our treatment plan, opting to simply observe the tumour in the first instance, which has since started to shrink without any treatment.”
Whole genome sequencing is the process of determining the entirety, or nearly the entirety, of the DNA sequence of a person’s genome at a single time.
It captures both large and small variants that can be missed with other targeted approaches. In Oliver’s case, the whole genome of the tumour was sequenced and compared to the sequenced DNA in his blood cells.
The test is available on the National Genomic Test Directory and is offered routinely for all children with cancer at CUH.
Patients have been referred to CUH from hospitals across the East of England for this highly specialised treatment.
Scientists at East Genomic Laboratory Hub provide expert analysis and interpretation of the patients WGS reports to help inform the clinical team’s decisions on the best course of treatment.
Oliver’s mother Sara said: “For the first eight weeks of Oliver being born, we lived with the prospect of cancer dominating all our lives and chemotherapy being the next step. Two weeks after his whole genome test, everything changed. We found out his tumour is benign and it’s getting smaller without any treatment. We couldn’t be more relieved.” “The team at Addenbrooke’s were incredible. They were honest with us at every step keeping us well informed of what we were dealing with.“Oliver is now getting bigger and stronger every day. It’s fantastic.”
Oliver’s father Michael said: “Our lives were turned upside down when we thought Oliver would need surgery and chemotherapy. Receiving such clarity on the type of tumour we were dealing was so important. We know we are really lucky to have such an outcome. It was like a miracle, a miracle test that told us he didn't have cancer and we could go back to our normal lives.”
Image: top Dr Sam Behjati
