Molecular testing could provide earlier diagnosis of rare cancer

Paget's Association's Research Bursary

Darrell Green and Jasmine Sanghera from Norwich, were recipients of the Paget's Association's Student Research Bursary to pursue research into a rare bone cancer (osteosarcoma) associated with Paget’s Disease of Bone. [2016-2017]

Allan Reid, from Glasgow, was unlucky enough to develop osteosarcoma arising from Paget’s disease. Whilst this is a very rare complication, it is a devastating illness, with a poor prognosis. Allan died in 2014, aged 57, just 7 years after he was first diagnosed with Paget’s. To enable some good to come out of his death, his distraught family, friends and colleagues, set about raising thousands of pounds for the Paget’s Association. It was fitting that a bursary be named in Allan’s memory.

Allan Reid, from Glasgow, was unlucky enough to develop osteosarcoma arising from Paget’s disease. Whilst this is a very rare complication, it is a devastating illness, with a poor prognosis. Allan died in 2014, aged 57, just 7 years after he was first diagnosed with Paget’s. To enable some good to come out of his death, his distraught family, friends and colleagues, set about raising thousands of pounds for the Paget’s Association. It was fitting that a bursary be named in Allan’s memory.

The bursary helped support a study at the University of East Anglia (UEA). Their researchers have discovered a way to identify the type of bone cancer seen to arise in some sufferers of Paget’s disease of bone, which is often missed until it is too advanced to treat.

Allan Reid was unlucky enough to develop osteosarcoma arising from Paget’s disease. Whilst this is a very rare complication, it is a devastating illness

Research supported by the Allan Reid Student Research Bursary Award

Paget’s disease of bone affects the cycle of bone renewal, weakening and deforming bones and is quite common in people over the age of 50. Usually, this condition is not life-threatening by itself but in just under 1 per cent of patients a type of bone cancer known as osteosarcoma can develop.

Paget’s disease of bone affects the cycle of bone renewal, weakening and deforming bones and is quite common in people over the age of 50. Usually this condition is not life-threatening by itself but in just under 1 per cent of patients a type of bone cancer known as osteosarcoma can develop.
According to a letter published in the journal Endocrine Related Cancer today, the team from the University of East Anglia have identified a molecule, which regulates a gene known to cause Paget’s disease and thought to cause its subsequent transformation into bone cancer.

Researchers used next generation sequencing to investigate the expression of microRNAs – molecules essential in many biological functions – and compared results from patients with Paget’s disease, patients with Paget’s disease and established osteosarcoma, and patients with neither.
They identified a particular microRNA called miR-16, which appeared to be expressed at a low level in cases of Paget’s disease, but switches to a high expression in cases of Paget’s disease with osteosarcoma. Although the study used a small sample number, the results are a promising step forward in diagnosing the cancer.

Dr Darrell Green from UEA’s Norwich Medical School said, “Study of Paget’s associated osteosarcoma is particularly difficult because it is a very rare cancer and availability at tissue banks is scarce. This small study however, shows that molecular testing could provide a robust diagnosis, which is especially useful in rare cancers. The results are also promising for potentially identifying a mechanism for how Paget's disease arises in the first place”

Professor Bill Fraser from UEA’s Norwich Medical School said, “Day-to-day symptoms of Paget’s disease and Paget’s associated osteosarcoma can be very similar, meaning that in many cases the progression to cancer isn’t spotted until it may be too advanced to treat. This type of testing, detecting the switch of miR-16 expression, could provide the crucial distinction, at an earlier stage of cancer development.” Professor Roger Francis, Chair of the Paget's Association which part-funded the study said, "This is an exciting paper, demonstrating a possible mechanism for the development of osteosarcoma, a rare complication of Paget's Disease of Bone. Nevertheless, this is a small study and the findings require investigation in future studies”.

This research was funded by cancer charity, The Big C, and The Paget’s Association. The letter ‘miR-16 is highly expressed in Paget’s associated osteosarcoma’ was published in Endocrine Related Cancer (2017).

Further Student Bursary helps Scientists make an important discovery

In 2017, Jasmine Sanghera, a biomedicine student at the University of East Anglia (UEA) in Norwich, was awarded the Sir Julian Paget Student Research Bursary by the Paget’s Association, to undertake research into a very rare complication of Paget’s Disease – bone cancer (osteosarcoma). We are delighted to announce that the Sir Julian Paget Student Research Bursary contributed to a paper published in 2020.

This work was part of a larger study, which discovered how and why primary bone cancer, which is mostly a childhood cancer, spreads to the lungs. This finding is extremely important as new drugs are now in the pipeline to prevent this spread. One of the adult patient donors in the study had osteosarcoma associated with Paget’s disease and the research proved extremely insightful into comparisons between the childhood form and the Paget’s form of osteosarcoma.

Sir Henry Paget presented the Student Research Bursary Award to Jasmine in November 2017. Jasmine  said, “This bursary was instrumental in expanding my medical training portfolio, to actually experience scientific research and to take the latest findings with me as I embark on my upcoming medical career. I am so grateful to the Paget’s Association and its supporters for giving me this opportunity”.

Dr Darrell Green, who led the study and who once received a Student Research Bursary from the Paget’s Association himself said, “It was fascinating to see the similarities and differences between childhood and Paget’s osteosarcoma. We now have a far greater understanding of both disease states and that means we can intervene at the clinical level. This discovery would not have happened without funding from the Association, so thank you so much. Jasmine was a fantastic student and I wish her all the best with her medical career. That’s another student entering medicine with the backing of the Paget’s Association, which will also help raise awareness of the condition”.

This type of complication is rare. Anyone who has any concerns about this can contact our Paget's Nurse Helpline

This discovery would not have happened without funding from the Association, so thank you so much

Dr Darrell Green

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